Canonical Allele Identifier: CA083395

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047567T>C , CM000663.2:g.201047567T>C	GRCh38
NC_000001.10:g.201016695T>C , CM000663.1:g.201016695T>C	GRCh37
NC_000001.9:g.199283318T>C	NCBI36
NG_009816.1:g.70000A>G
NG_009816.2:g.70000A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4501A>G MANE Select	NP_000060.2:p.Thr1501Ala
ENST00000362061.4:c.4501A>G MANE Select	ENSP00000355192.3:p.Thr1501Ala
NM_000069.2:c.4501A>G	NP_000060.2:p.Thr1501Ala
ENST00000362061.3:c.4501A>G	ENSP00000355192.3:p.Thr1501Ala
ENST00000367338.7:c.4444A>G	ENSP00000356307.3:p.Thr1482Ala
ENST00000679417.1:c.*3664A>G	ENSP00000506706.1:n.*3664A>G
ENST00000680051.1:n.1627A>G
ENST00000680059.1:c.*2019A>G	ENSP00000504944.1:n.*2019A>G
ENST00000681078.1:c.*276A>G	ENSP00000506645.1:n.*276A>G
ENST00000681190.1:c.*683A>G	ENSP00000506428.1:n.*683A>G
ENST00000681874.1:c.4441A>G	ENSP00000505162.1:p.Thr1481Ala
XM_005245478.2:c.4444A>G	XP_005245535.1:p.Thr1482Ala
XM_005245478.3:c.4444A>G	XP_005245535.1:p.Thr1482Ala