Canonical Allele Identifier: CA083331

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201048609G>A , CM000663.2:g.201048609G>A	GRCh38
NC_000001.10:g.201017737G>A , CM000663.1:g.201017737G>A	GRCh37
NC_000001.9:g.199284360G>A	NCBI36
NG_009816.1:g.68958C>T
NG_009816.2:g.68958C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4414C>T MANE Select	NP_000060.2:p.Arg1472Cys
ENST00000362061.4:c.4414C>T MANE Select	ENSP00000355192.3:p.Arg1472Cys
NM_000069.2:c.4414C>T	NP_000060.2:p.Arg1472Cys
ENST00000362061.3:c.4414C>T	ENSP00000355192.3:p.Arg1472Cys
ENST00000367338.7:c.4357C>T	ENSP00000356307.3:p.Arg1453Cys
ENST00000679417.1:c.*3577C>T	ENSP00000506706.1:n.*3577C>T
ENST00000680051.1:n.1540C>T
ENST00000680059.1:c.*1932C>T	ENSP00000504944.1:n.*1932C>T
ENST00000681078.1:c.*189C>T	ENSP00000506645.1:n.*189C>T
ENST00000681190.1:c.*596C>T	ENSP00000506428.1:n.*596C>T
ENST00000681874.1:c.4354C>T	ENSP00000505162.1:p.Arg1452Cys
XM_005245478.2:c.4357C>T	XP_005245535.1:p.Arg1453Cys
XM_005245478.3:c.4357C>T	XP_005245535.1:p.Arg1453Cys