Canonical Allele Identifier: CA16619892
Gene: CALM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418107
ClinVar RCV Id: RCV000483471
dbSNP Id: rs1064793078
MyVariant Identifiers: chr14:g.90870856A>T (hg19) chr14:g.90404512A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404512A>T , CM000676.2:g.90404512A>T GRCh38
NC_000014.8:g.90870856A>T , CM000676.1:g.90870856A>T GRCh37
NC_000014.7:g.89940609A>T NCBI36
NG_013338.1:g.12530A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356978.9:c.419A>T MANE Select ENSP00000349467.4:p.Glu140Val
ENST00000447653.8:c.311A>T ENSP00000403491.4:p.Glu104Val
ENST00000659177.1:c.311A>T ENSP00000499421.1:p.Glu104Val
ENST00000663135.1:c.311A>T ENSP00000499498.1:p.Glu104Val
ENST00000356978.8:c.419A>T ENSP00000349467.4:p.Glu140Val
ENST00000447653.7:c.422A>T ENSP00000403491.3:p.Glu141Val
ENST00000544280.6:c.311A>T ENSP00000442853.2:p.Glu104Val
ENST00000553422.1:c.291A>T ENSP00000450425.1:n.291A>T
ENST00000553542.5:c.311A>T ENSP00000450829.1:p.Glu104Val
ENST00000553630.1:c.*60A>T ENSP00000451646.1:n.*60A>T
ENST00000553964.5:n.2549A>T
ENST00000554296.1:n.471A>T
ENST00000556721.1:n.345A>T
ENST00000626705.2:c.221A>T ENSP00000486402.1:p.Glu74Val
NM_006888.4:c.419A>T NP_008819.1:p.Glu140Val
XM_006720258.2:c.422A>T XP_006720321.1:p.Glu141Val
NM_001363669.1:c.311A>T NP_001350598.1:p.Glu104Val
NM_001363670.1:c.422A>T NP_001350599.1:p.Glu141Val
NM_006888.5:c.419A>T NP_008819.1:p.Glu140Val
NM_006888.6:c.419A>T MANE Select NP_008819.1:p.Glu140Val
NM_001363669.2:c.311A>T NP_001350598.1:p.Glu104Val
NM_001363670.2:c.422A>T NP_001350599.1:p.Glu141Val
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