Canonical Allele Identifier: CA186013

Gene: CALM1

Linked Data

• ClinVar Variation Id: 183230
• ClinVar RCV Id: RCV000162062 ; RCV001781506
• dbSNP Id: rs730882252
• MyVariant Identifiers: chr14:g.90870826A>G (hg19) ; chr14:g.90404482A>G (hg38)
• PubMed: PMID:23388215

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404482A>G , CM000676.2:g.90404482A>G	GRCh38
NC_000014.8:g.90870826A>G , CM000676.1:g.90870826A>G	GRCh37
NC_000014.7:g.89940579A>G	NCBI36
NG_013338.1:g.12500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.389A>G MANE Select	ENSP00000349467.4:p.Asp130Gly
ENST00000447653.8:c.281A>G	ENSP00000403491.4:p.Asp94Gly
ENST00000659177.1:c.281A>G	ENSP00000499421.1:p.Asp94Gly
ENST00000663135.1:c.281A>G	ENSP00000499498.1:p.Asp94Gly
ENST00000356978.8:c.389A>G	ENSP00000349467.4:p.Asp130Gly
ENST00000447653.7:c.392A>G	ENSP00000403491.3:p.Asp131Gly
ENST00000544280.6:c.281A>G	ENSP00000442853.2:p.Asp94Gly
ENST00000553422.1:c.261A>G	ENSP00000450425.1:n.261A>G
ENST00000553542.5:c.281A>G	ENSP00000450829.1:p.Asp94Gly
ENST00000553630.1:c.*30A>G	ENSP00000451646.1:n.*30A>G
ENST00000553964.5:n.2519A>G
ENST00000554296.1:n.441A>G
ENST00000556721.1:n.315A>G
ENST00000557020.5:c.281A>G	ENSP00000451062.1:p.Asp94Gly
ENST00000626705.2:c.191A>G	ENSP00000486402.1:p.Asp64Gly
NM_006888.4:c.389A>G	NP_008819.1:p.Asp130Gly
XM_006720258.2:c.392A>G	XP_006720321.1:p.Asp131Gly
NM_001363669.1:c.281A>G	NP_001350598.1:p.Asp94Gly
NM_001363670.1:c.392A>G	NP_001350599.1:p.Asp131Gly
NM_006888.5:c.389A>G	NP_008819.1:p.Asp130Gly
NM_006888.6:c.389A>G MANE Select	NP_008819.1:p.Asp130Gly
NM_001363669.2:c.281A>G	NP_001350598.1:p.Asp94Gly
NM_001363670.2:c.392A>G	NP_001350599.1:p.Asp131Gly