Canonical Allele Identifier: CA390690437

Gene: CALM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404689A>T , CM000676.2:g.90404689A>T	GRCh38
NC_000014.8:g.90871033A>T , CM000676.1:g.90871033A>T	GRCh37
NC_000014.7:g.89940786A>T	NCBI36
NG_013338.1:g.12707A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006888.6:c.422A>T MANE Select	NP_008819.1:p.Glu141Val
ENST00000356978.9:c.422A>T MANE Select	ENSP00000349467.4:p.Glu141Val
NM_001363669.1:c.314A>T	NP_001350598.1:p.Glu105Val
NM_001363669.2:c.314A>T	NP_001350598.1:p.Glu105Val
NM_001363670.1:c.425A>T	NP_001350599.1:p.Glu142Val
NM_001363670.2:c.425A>T	NP_001350599.1:p.Glu142Val
NM_006888.4:c.422A>T	NP_008819.1:p.Glu141Val
NM_006888.5:c.422A>T	NP_008819.1:p.Glu141Val
ENST00000356978.8:c.422A>T	ENSP00000349467.4:p.Glu141Val
ENST00000447653.7:c.425A>T	ENSP00000403491.3:p.Glu142Val
ENST00000447653.8:c.314A>T	ENSP00000403491.4:p.Glu105Val
ENST00000544280.6:c.314A>T	ENSP00000442853.2:p.Glu105Val
ENST00000553422.1:c.294A>T	ENSP00000450425.1:n.294A>T
ENST00000553542.5:c.314A>T	ENSP00000450829.1:p.Glu105Val
ENST00000553630.1:c.*63A>T	ENSP00000451646.1:n.*63A>T
ENST00000553964.5:n.2552A>T
ENST00000554296.1:n.474A>T
ENST00000556721.1:n.348A>T
ENST00000626705.2:c.224A>T	ENSP00000486402.1:p.Glu75Val
ENST00000659177.1:c.314A>T	ENSP00000499421.1:p.Glu105Val
ENST00000663135.1:c.314A>T	ENSP00000499498.1:p.Glu105Val
XM_006720258.2:c.425A>T	XP_006720321.1:p.Glu142Val