Canonical Allele Identifier: CA344138875

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044339C>G , CM000663.2:g.201044339C>G	GRCh38
NC_000001.10:g.201013467C>G , CM000663.1:g.201013467C>G	GRCh37
NC_000001.9:g.199280090C>G	NCBI36
NG_009816.1:g.73228G>C
NG_009816.2:g.73228G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4786G>C MANE Select	NP_000060.2:p.Gly1596Arg
ENST00000362061.4:c.4786G>C MANE Select	ENSP00000355192.3:p.Gly1596Arg
NM_000069.2:c.4786G>C	NP_000060.2:p.Gly1596Arg
ENST00000362061.3:c.4786G>C	ENSP00000355192.3:p.Gly1596Arg
ENST00000367338.7:c.4729G>C	ENSP00000356307.3:p.Gly1577Arg
ENST00000679417.1:c.*3949G>C	ENSP00000506706.1:n.*3949G>C
ENST00000680051.1:n.1912G>C
ENST00000680059.1:c.*2304G>C	ENSP00000504944.1:n.*2304G>C
ENST00000681078.1:c.*561G>C	ENSP00000506645.1:n.*561G>C
ENST00000681190.1:c.*968G>C	ENSP00000506428.1:n.*968G>C
ENST00000681874.1:c.4726G>C	ENSP00000505162.1:p.Gly1576Arg
XM_005245478.2:c.4729G>C	XP_005245535.1:p.Gly1577Arg
XM_005245478.3:c.4729G>C	XP_005245535.1:p.Gly1577Arg