Hs00186974_cn

• Gene Symbol: CNN1
• Assay Reference Genome Location: Chr.19:11538950 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 1264
• Gene Name: calponin 1
• Gene Aliases: HEL-S-14, SMCC, Sm-Calp
• Location: Chr.19:11538717-11550323 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNN1	NM_001299.5			NP_001290.2
	NM_001308341.1			NP_001295270.1
	NM_001308342.1			NP_001295271.1
	AK223234.1			BAD96954.1
	AK301888.1
	AK313255.1
	AK316406.1
	BC022015.2			AAH22015.1
	BC036307.1			AAH36307.2
	BG718473.1
	D17408.1			BAA04231.1
	EU794601.1
	S80560.1			AAB35751.1
	U37019.1			AAC51780.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv509721	Chr.19:11525216 - 11691390 on Build GRCh38	Insertion	ZNF833P LOC105369211 ECSIT ELOF1 CNN1 HNRNPA1P10 ZNF627 ACP5
nsv519802	Chr.19:11236817 - 11578343 on Build GRCh38	Loss	MIR7974 SWSAP1 EPOR ELOF1 CCDC159 PLPPR2 PRKCSH TMEM205 DOCK6 RGL3 TSPAN16 ANGPTL8 LOC105369211 ECSIT ELAVL3 CNN1 HSPC102 CCDC151 RAB3D ZNF627 ACP5 ZNF653

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of smooth muscle contraction
actomyosin structure organization

Function(s)

actin binding
protein binding
calmodulin binding