Canonical Allele Identifier: CA16617038

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047546G>C , CM000663.2:g.201047546G>C	GRCh38
NC_000001.10:g.201016674G>C , CM000663.1:g.201016674G>C	GRCh37
NC_000001.9:g.199283297G>C	NCBI36
NG_009816.1:g.70021C>G
NG_009816.2:g.70021C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4522C>G MANE Select	NP_000060.2:p.Gln1508Glu
ENST00000362061.4:c.4522C>G MANE Select	ENSP00000355192.3:p.Gln1508Glu
NM_000069.2:c.4522C>G	NP_000060.2:p.Gln1508Glu
ENST00000362061.3:c.4522C>G	ENSP00000355192.3:p.Gln1508Glu
ENST00000367338.7:c.4465C>G	ENSP00000356307.3:p.Gln1489Glu
ENST00000679417.1:c.*3685C>G	ENSP00000506706.1:n.*3685C>G
ENST00000680051.1:n.1648C>G
ENST00000680059.1:c.*2040C>G	ENSP00000504944.1:n.*2040C>G
ENST00000681078.1:c.*297C>G	ENSP00000506645.1:n.*297C>G
ENST00000681190.1:c.*704C>G	ENSP00000506428.1:n.*704C>G
ENST00000681874.1:c.4462C>G	ENSP00000505162.1:p.Gln1488Glu
XM_005245478.2:c.4465C>G	XP_005245535.1:p.Gln1489Glu
XM_005245478.3:c.4465C>G	XP_005245535.1:p.Gln1489Glu