Canonical Allele Identifier: CA344150900

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201051122C>T , CM000663.2:g.201051122C>T	GRCh38
NC_000001.10:g.201020250C>T , CM000663.1:g.201020250C>T	GRCh37
NC_000001.9:g.199286873C>T	NCBI36
NG_009816.1:g.66445G>A
NG_009816.2:g.66445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3975G>A MANE Select	NP_000060.2:p.Trp1325Ter
ENST00000362061.4:c.3975G>A MANE Select	ENSP00000355192.3:p.Trp1325Ter
NM_000069.2:c.3975G>A	NP_000060.2:p.Trp1325Ter
ENST00000362061.3:c.3975G>A	ENSP00000355192.3:p.Trp1325Ter
ENST00000367338.7:c.3918G>A	ENSP00000356307.3:p.Trp1306Ter
ENST00000679417.1:c.*3138G>A	ENSP00000506706.1:n.*3138G>A
ENST00000680051.1:n.1101G>A
ENST00000680059.1:c.*1493G>A	ENSP00000504944.1:n.*1493G>A
ENST00000681078.1:c.3975G>A	ENSP00000506645.1:p.Trp1325Ter
ENST00000681190.1:c.*157G>A	ENSP00000506428.1:n.*157G>A
ENST00000681874.1:c.3915G>A	ENSP00000505162.1:p.Trp1305Ter
XM_005245478.2:c.3918G>A	XP_005245535.1:p.Trp1306Ter
XM_005245478.3:c.3918G>A	XP_005245535.1:p.Trp1306Ter