Canonical Allele Identifier: CA344101253

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1237166180
• MyVariant Identifiers: chr1:g.201034982C>G (hg19) ; chr1:g.201065854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065854C>G , CM000663.2:g.201065854C>G	GRCh38
NC_000001.10:g.201034982C>G , CM000663.1:g.201034982C>G	GRCh37
NC_000001.9:g.199301605C>G	NCBI36
NG_009816.1:g.51713G>C
NG_009816.2:g.51713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.2837G>C MANE Select	ENSP00000355192.3:p.Gly946Ala
ENST00000679417.1:c.*2000G>C	ENSP00000506706.1:n.*2000G>C
ENST00000680059.1:c.*355G>C	ENSP00000504944.1:n.*355G>C
ENST00000681078.1:c.2837G>C	ENSP00000506645.1:p.Gly946Ala
ENST00000681190.1:c.2837G>C	ENSP00000506428.1:p.Gly946Ala
ENST00000681874.1:c.2777G>C	ENSP00000505162.1:p.Gly926Ala
ENST00000362061.3:c.2837G>C	ENSP00000355192.3:p.Gly946Ala
ENST00000367338.7:c.2837G>C	ENSP00000356307.3:p.Gly946Ala
NM_000069.2:c.2837G>C	NP_000060.2:p.Gly946Ala
XM_005245478.2:c.2837G>C	XP_005245535.1:p.Gly946Ala
XM_005245478.3:c.2837G>C	XP_005245535.1:p.Gly946Ala
NM_000069.3:c.2837G>C MANE Select	NP_000060.2:p.Gly946Ala