Canonical Allele Identifier: CA082743

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053576C>G , CM000663.2:g.201053576C>G	GRCh38
NC_000001.10:g.201022704C>G , CM000663.1:g.201022704C>G	GRCh37
NC_000001.9:g.199289327C>G	NCBI36
NG_009816.1:g.63991G>C
NG_009816.2:g.63991G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3678G>C MANE Select	NP_000060.2:p.Glu1226Asp
ENST00000362061.4:c.3678G>C MANE Select	ENSP00000355192.3:p.Glu1226Asp
NM_000069.2:c.3678G>C	NP_000060.2:p.Glu1226Asp
ENST00000362061.3:c.3678G>C	ENSP00000355192.3:p.Glu1226Asp
ENST00000367338.7:c.3621G>C	ENSP00000356307.3:p.Glu1207Asp
ENST00000679417.1:c.*2841G>C	ENSP00000506706.1:n.*2841G>C
ENST00000680051.1:n.804G>C
ENST00000680059.1:c.*1196G>C	ENSP00000504944.1:n.*1196G>C
ENST00000681078.1:c.3678G>C	ENSP00000506645.1:p.Glu1226Asp
ENST00000681190.1:c.3678G>C	ENSP00000506428.1:p.Glu1226Asp
ENST00000681874.1:c.3618G>C	ENSP00000505162.1:p.Glu1206Asp
XM_005245478.2:c.3621G>C	XP_005245535.1:p.Glu1207Asp
XM_005245478.3:c.3621G>C	XP_005245535.1:p.Glu1207Asp