Canonical Allele Identifier: CA083447

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047218T>C , CM000663.2:g.201047218T>C	GRCh38
NC_000001.10:g.201016346T>C , CM000663.1:g.201016346T>C	GRCh37
NC_000001.9:g.199282969T>C	NCBI36
NG_009816.1:g.70349A>G
NG_009816.2:g.70349A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4565A>G MANE Select	NP_000060.2:p.Lys1522Arg
ENST00000362061.4:c.4565A>G MANE Select	ENSP00000355192.3:p.Lys1522Arg
NM_000069.2:c.4565A>G	NP_000060.2:p.Lys1522Arg
ENST00000362061.3:c.4565A>G	ENSP00000355192.3:p.Lys1522Arg
ENST00000367338.7:c.4508A>G	ENSP00000356307.3:p.Lys1503Arg
ENST00000679417.1:c.*3728A>G	ENSP00000506706.1:n.*3728A>G
ENST00000680051.1:n.1691A>G
ENST00000680059.1:c.*2083A>G	ENSP00000504944.1:n.*2083A>G
ENST00000681078.1:c.*340A>G	ENSP00000506645.1:n.*340A>G
ENST00000681190.1:c.*747A>G	ENSP00000506428.1:n.*747A>G
ENST00000681874.1:c.4505A>G	ENSP00000505162.1:p.Lys1502Arg
XM_005245478.2:c.4508A>G	XP_005245535.1:p.Lys1503Arg
XM_005245478.3:c.4508A>G	XP_005245535.1:p.Lys1503Arg