Canonical Allele Identifier: CA083543

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044420C>T , CM000663.2:g.201044420C>T	GRCh38
NC_000001.10:g.201013548C>T , CM000663.1:g.201013548C>T	GRCh37
NC_000001.9:g.199280171C>T	NCBI36
NG_009816.1:g.73147G>A
NG_009816.2:g.73147G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4705G>A MANE Select	NP_000060.2:p.Glu1569Lys
ENST00000362061.4:c.4705G>A MANE Select	ENSP00000355192.3:p.Glu1569Lys
NM_000069.2:c.4705G>A	NP_000060.2:p.Glu1569Lys
ENST00000362061.3:c.4705G>A	ENSP00000355192.3:p.Glu1569Lys
ENST00000367338.7:c.4648G>A	ENSP00000356307.3:p.Glu1550Lys
ENST00000679417.1:c.*3868G>A	ENSP00000506706.1:n.*3868G>A
ENST00000680051.1:n.1831G>A
ENST00000680059.1:c.*2223G>A	ENSP00000504944.1:n.*2223G>A
ENST00000681078.1:c.*480G>A	ENSP00000506645.1:n.*480G>A
ENST00000681190.1:c.*887G>A	ENSP00000506428.1:n.*887G>A
ENST00000681874.1:c.4645G>A	ENSP00000505162.1:p.Glu1549Lys
XM_005245478.2:c.4648G>A	XP_005245535.1:p.Glu1550Lys
XM_005245478.3:c.4648G>A	XP_005245535.1:p.Glu1550Lys