Canonical Allele Identifier: CA16606883

Gene: CALM1

Linked Data

• ClinVar Variation Id: 388500
• ClinVar RCV Id: RCV000442999
• dbSNP Id: rs1057523130
• MyVariant Identifiers: chr14:g.90870750G>A (hg19) ; chr14:g.90404406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404406G>A , CM000676.2:g.90404406G>A	GRCh38
NC_000014.8:g.90870750G>A , CM000676.1:g.90870750G>A	GRCh37
NC_000014.7:g.89940503G>A	NCBI36
NG_013338.1:g.12424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.313G>A MANE Select	ENSP00000349467.4:p.Glu105Lys
ENST00000447653.8:c.205G>A	ENSP00000403491.4:p.Glu69Lys
ENST00000659177.1:c.205G>A	ENSP00000499421.1:p.Glu69Lys
ENST00000663135.1:c.205G>A	ENSP00000499498.1:p.Glu69Lys
ENST00000356978.8:c.313G>A	ENSP00000349467.4:p.Glu105Lys
ENST00000447653.7:c.316G>A	ENSP00000403491.3:p.Glu106Lys
ENST00000544280.6:c.205G>A	ENSP00000442853.2:p.Glu69Lys
ENST00000553422.1:c.185G>A	ENSP00000450425.1:p.Arg62Lys
ENST00000553542.5:c.205G>A	ENSP00000450829.1:p.Glu69Lys
ENST00000553630.1:c.206G>A	ENSP00000451646.1:p.Arg69Lys
ENST00000553964.5:n.2443G>A
ENST00000554296.1:n.365G>A
ENST00000556721.1:n.239G>A
ENST00000557020.5:c.205G>A	ENSP00000451062.1:p.Glu69Lys
ENST00000626705.2:c.166-51G>A	ENSP00000486402.1:n.166-51G>A
NM_006888.4:c.313G>A	NP_008819.1:p.Glu105Lys
XM_006720258.2:c.316G>A	XP_006720321.1:p.Glu106Lys
NM_001363669.1:c.205G>A	NP_001350598.1:p.Glu69Lys
NM_001363670.1:c.316G>A	NP_001350599.1:p.Glu106Lys
NM_006888.5:c.313G>A	NP_008819.1:p.Glu105Lys
NM_006888.6:c.313G>A MANE Select	NP_008819.1:p.Glu105Lys
NM_001363669.2:c.205G>A	NP_001350598.1:p.Glu69Lys
NM_001363670.2:c.316G>A	NP_001350599.1:p.Glu106Lys