Canonical Allele Identifier: CA186013
Gene: CALM1 HGNC NCBI

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
JSON-LD

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
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