Canonical Allele Identifier: CA344161234

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060815C>G , CM000663.2:g.201060815C>G	GRCh38
NC_000001.10:g.201029943C>G , CM000663.1:g.201029943C>G	GRCh37
NC_000001.9:g.199296566C>G	NCBI36
NG_009816.1:g.56752G>C
NG_009816.2:g.56752G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3257G>C MANE Select	NP_000060.2:p.Arg1086Pro
ENST00000362061.4:c.3257G>C MANE Select	ENSP00000355192.3:p.Arg1086Pro
NM_000069.2:c.3257G>C	NP_000060.2:p.Arg1086Pro
ENST00000362061.3:c.3257G>C	ENSP00000355192.3:p.Arg1086Pro
ENST00000367338.7:c.3257G>C	ENSP00000356307.3:p.Arg1086Pro
ENST00000679417.1:c.*2420G>C	ENSP00000506706.1:n.*2420G>C
ENST00000680051.1:n.383G>C
ENST00000680059.1:c.*775G>C	ENSP00000504944.1:n.*775G>C
ENST00000681078.1:c.3257G>C	ENSP00000506645.1:p.Arg1086Pro
ENST00000681190.1:c.3257G>C	ENSP00000506428.1:p.Arg1086Pro
ENST00000681874.1:c.3197G>C	ENSP00000505162.1:p.Arg1066Pro
XM_005245478.2:c.3257G>C	XP_005245535.1:p.Arg1086Pro
XM_005245478.3:c.3257G>C	XP_005245535.1:p.Arg1086Pro