Canonical Allele Identifier: CA1140496127

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053539G= , CM000663.2:g.201053539G=	GRCh38
NC_000001.10:g.201022667G= , CM000663.1:g.201022667G=	GRCh37
NC_000001.9:g.199289290G=	NCBI36
NG_009816.1:g.64028C=
NG_009816.2:g.64028C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3715C= MANE Select	NP_000060.2:p.Arg1239=
ENST00000362061.4:c.3715C= MANE Select	ENSP00000355192.3:p.Arg1239=
NM_000069.2:c.3715C=	NP_000060.2:p.Arg1239=
ENST00000362061.3:c.3715C=	ENSP00000355192.3:p.Arg1239=
ENST00000367338.7:c.3658C=	ENSP00000356307.3:p.Arg1220=
ENST00000679417.1:c.*2878C=	ENSP00000506706.1:n.*2878C=
ENST00000680051.1:n.841C=
ENST00000680059.1:c.*1233C=	ENSP00000504944.1:n.*1233C=
ENST00000681078.1:c.3715C=	ENSP00000506645.1:p.Arg1239=
ENST00000681190.1:c.3715C=	ENSP00000506428.1:p.Arg1239=
ENST00000681874.1:c.3655C=	ENSP00000505162.1:p.Arg1219=
XM_005245478.2:c.3658C=	XP_005245535.1:p.Arg1220=
XM_005245478.3:c.3658C=	XP_005245535.1:p.Arg1220=