Canonical Allele Identifier: CA083561

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044394G>C , CM000663.2:g.201044394G>C	GRCh38
NC_000001.10:g.201013522G>C , CM000663.1:g.201013522G>C	GRCh37
NC_000001.9:g.199280145G>C	NCBI36
NG_009816.1:g.73173C>G
NG_009816.2:g.73173C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4731C>G MANE Select	NP_000060.2:p.Asp1577Glu
ENST00000362061.4:c.4731C>G MANE Select	ENSP00000355192.3:p.Asp1577Glu
NM_000069.2:c.4731C>G	NP_000060.2:p.Asp1577Glu
ENST00000362061.3:c.4731C>G	ENSP00000355192.3:p.Asp1577Glu
ENST00000367338.7:c.4674C>G	ENSP00000356307.3:p.Asp1558Glu
ENST00000679417.1:c.*3894C>G	ENSP00000506706.1:n.*3894C>G
ENST00000680051.1:n.1857C>G
ENST00000680059.1:c.*2249C>G	ENSP00000504944.1:n.*2249C>G
ENST00000681078.1:c.*506C>G	ENSP00000506645.1:n.*506C>G
ENST00000681190.1:c.*913C>G	ENSP00000506428.1:n.*913C>G
ENST00000681874.1:c.4671C>G	ENSP00000505162.1:p.Asp1557Glu
XM_005245478.2:c.4674C>G	XP_005245535.1:p.Asp1558Glu
XM_005245478.3:c.4674C>G	XP_005245535.1:p.Asp1558Glu