Canonical Allele Identifier: CA004070

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043324C>T , CM000663.2:g.201043324C>T	GRCh38
NC_000001.10:g.201012452C>T , CM000663.1:g.201012452C>T	GRCh37
NC_000001.9:g.199279075C>T	NCBI36
NG_009816.1:g.74243G>A
NG_009816.2:g.74243G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.5005G>A MANE Select	NP_000060.2:p.Ala1669Thr
ENST00000362061.4:c.5005G>A MANE Select	ENSP00000355192.3:p.Ala1669Thr
NM_000069.2:c.5005G>A	NP_000060.2:p.Ala1669Thr
ENST00000362061.3:c.5005G>A	ENSP00000355192.3:p.Ala1669Thr
ENST00000367338.7:c.4948G>A	ENSP00000356307.3:p.Ala1650Thr
ENST00000679417.1:c.*4168G>A	ENSP00000506706.1:n.*4168G>A
ENST00000680051.1:n.2131G>A
ENST00000680059.1:c.*2523G>A	ENSP00000504944.1:n.*2523G>A
ENST00000681078.1:c.*780G>A	ENSP00000506645.1:n.*780G>A
ENST00000681190.1:c.*1187G>A	ENSP00000506428.1:n.*1187G>A
ENST00000681874.1:c.4945G>A	ENSP00000505162.1:p.Ala1649Thr
XM_005245478.2:c.4948G>A	XP_005245535.1:p.Ala1650Thr
XM_005245478.3:c.4948G>A	XP_005245535.1:p.Ala1650Thr