Canonical Allele Identifier: CA35996167

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047182C>T , CM000663.2:g.201047182C>T	GRCh38
NC_000001.10:g.201016310C>T , CM000663.1:g.201016310C>T	GRCh37
NC_000001.9:g.199282933C>T	NCBI36
NG_009816.1:g.70385G>A
NG_009816.2:g.70385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4601G>A MANE Select	NP_000060.2:p.Arg1534Gln
ENST00000362061.4:c.4601G>A MANE Select	ENSP00000355192.3:p.Arg1534Gln
NM_000069.2:c.4601G>A	NP_000060.2:p.Arg1534Gln
ENST00000362061.3:c.4601G>A	ENSP00000355192.3:p.Arg1534Gln
ENST00000367338.7:c.4544G>A	ENSP00000356307.3:p.Arg1515Gln
ENST00000679417.1:c.*3764G>A	ENSP00000506706.1:n.*3764G>A
ENST00000680051.1:n.1727G>A
ENST00000680059.1:c.*2119G>A	ENSP00000504944.1:n.*2119G>A
ENST00000681078.1:c.*376G>A	ENSP00000506645.1:n.*376G>A
ENST00000681190.1:c.*783G>A	ENSP00000506428.1:n.*783G>A
ENST00000681874.1:c.4541G>A	ENSP00000505162.1:p.Arg1514Gln
XM_005245478.2:c.4544G>A	XP_005245535.1:p.Arg1515Gln
XM_005245478.3:c.4544G>A	XP_005245535.1:p.Arg1515Gln