Canonical Allele Identifier: CA344102555

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 1012548
• ClinVar RCV Id: RCV001310555
• dbSNP Id: rs80338779
• MyVariant Identifiers: chr1:g.201035411C>G (hg19) ; chr1:g.201066283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201066283C>G , CM000663.2:g.201066283C>G	GRCh38
NC_000001.10:g.201035411C>G , CM000663.1:g.201035411C>G	GRCh37
NC_000001.9:g.199302034C>G	NCBI36
NG_009816.1:g.51284G>C
NG_009816.2:g.51284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.2691G>C MANE Select	ENSP00000355192.3:p.Arg897Ser
ENST00000679417.1:c.*1854G>C	ENSP00000506706.1:n.*1854G>C
ENST00000680059.1:c.*209G>C	ENSP00000504944.1:n.*209G>C
ENST00000681078.1:c.2691G>C	ENSP00000506645.1:p.Arg897Ser
ENST00000681190.1:c.2691G>C	ENSP00000506428.1:p.Arg897Ser
ENST00000681874.1:c.2631G>C	ENSP00000505162.1:p.Arg877Ser
ENST00000362061.3:c.2691G>C	ENSP00000355192.3:p.Arg897Ser
ENST00000367338.7:c.2691G>C	ENSP00000356307.3:p.Arg897Ser
NM_000069.2:c.2691G>C	NP_000060.2:p.Arg897Ser
XM_005245478.2:c.2691G>C	XP_005245535.1:p.Arg897Ser
XM_005245478.3:c.2691G>C	XP_005245535.1:p.Arg897Ser
NM_000069.3:c.2691G>C MANE Select	NP_000060.2:p.Arg897Ser