Canonical Allele Identifier: CA390690363

Gene: CALM1

Linked Data

• ClinVar Variation Id: 542137
• ClinVar RCV Id: RCV000652517
• dbSNP Id: rs1555366045
• MyVariant Identifiers: chr14:g.90870835G>A (hg19) ; chr14:g.90404491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404491G>A , CM000676.2:g.90404491G>A	GRCh38
NC_000014.8:g.90870835G>A , CM000676.1:g.90870835G>A	GRCh37
NC_000014.7:g.89940588G>A	NCBI36
NG_013338.1:g.12509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.398G>A MANE Select	ENSP00000349467.4:p.Gly133Glu
ENST00000447653.8:c.290G>A	ENSP00000403491.4:p.Gly97Glu
ENST00000659177.1:c.290G>A	ENSP00000499421.1:p.Gly97Glu
ENST00000663135.1:c.290G>A	ENSP00000499498.1:p.Gly97Glu
ENST00000356978.8:c.398G>A	ENSP00000349467.4:p.Gly133Glu
ENST00000447653.7:c.401G>A	ENSP00000403491.3:p.Gly134Glu
ENST00000544280.6:c.290G>A	ENSP00000442853.2:p.Gly97Glu
ENST00000553422.1:c.270G>A	ENSP00000450425.1:n.270G>A
ENST00000553542.5:c.290G>A	ENSP00000450829.1:p.Gly97Glu
ENST00000553630.1:c.*39G>A	ENSP00000451646.1:n.*39G>A
ENST00000553964.5:n.2528G>A
ENST00000554296.1:n.450G>A
ENST00000556721.1:n.324G>A
ENST00000557020.5:c.290G>A	ENSP00000451062.1:p.Gly97Glu
ENST00000626705.2:c.200G>A	ENSP00000486402.1:p.Gly67Glu
NM_006888.4:c.398G>A	NP_008819.1:p.Gly133Glu
XM_006720258.2:c.401G>A	XP_006720321.1:p.Gly134Glu
NM_001363669.1:c.290G>A	NP_001350598.1:p.Gly97Glu
NM_001363670.1:c.401G>A	NP_001350599.1:p.Gly134Glu
NM_006888.5:c.398G>A	NP_008819.1:p.Gly133Glu
NM_006888.6:c.398G>A MANE Select	NP_008819.1:p.Gly133Glu
NM_001363669.2:c.290G>A	NP_001350598.1:p.Gly97Glu
NM_001363670.2:c.401G>A	NP_001350599.1:p.Gly134Glu