Canonical Allele Identifier: CA079286

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065918T>C , CM000663.2:g.201065918T>C	GRCh38
NC_000001.10:g.201035046T>C , CM000663.1:g.201035046T>C	GRCh37
NC_000001.9:g.199301669T>C	NCBI36
NG_009816.1:g.51649A>G
NG_009816.2:g.51649A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.2773A>G MANE Select	NP_000060.2:p.Ile925Val
ENST00000362061.4:c.2773A>G MANE Select	ENSP00000355192.3:p.Ile925Val
NM_000069.2:c.2773A>G	NP_000060.2:p.Ile925Val
ENST00000362061.3:c.2773A>G	ENSP00000355192.3:p.Ile925Val
ENST00000367338.7:c.2773A>G	ENSP00000356307.3:p.Ile925Val
ENST00000679417.1:c.*1936A>G	ENSP00000506706.1:n.*1936A>G
ENST00000680059.1:c.*291A>G	ENSP00000504944.1:n.*291A>G
ENST00000681078.1:c.2773A>G	ENSP00000506645.1:p.Ile925Val
ENST00000681190.1:c.2773A>G	ENSP00000506428.1:p.Ile925Val
ENST00000681874.1:c.2713A>G	ENSP00000505162.1:p.Ile905Val
XM_005245478.2:c.2773A>G	XP_005245535.1:p.Ile925Val
XM_005245478.3:c.2773A>G	XP_005245535.1:p.Ile925Val