Canonical Allele Identifier: CA344157479

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201027570C>G (hg19) ; chr1:g.201058442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058442C>G , CM000663.2:g.201058442C>G	GRCh38
NC_000001.10:g.201027570C>G , CM000663.1:g.201027570C>G	GRCh37
NC_000001.9:g.199294193C>G	NCBI36
NG_009816.1:g.59125G>C
NG_009816.2:g.59125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3575G>C MANE Select	ENSP00000355192.3:p.Gly1192Ala
ENST00000679417.1:c.*2738G>C	ENSP00000506706.1:n.*2738G>C
ENST00000680051.1:n.701G>C
ENST00000680059.1:c.*1093G>C	ENSP00000504944.1:n.*1093G>C
ENST00000681078.1:c.3575G>C	ENSP00000506645.1:p.Gly1192Ala
ENST00000681190.1:c.3575G>C	ENSP00000506428.1:p.Gly1192Ala
ENST00000681874.1:c.3515G>C	ENSP00000505162.1:p.Gly1172Ala
ENST00000362061.3:c.3575G>C	ENSP00000355192.3:p.Gly1192Ala
ENST00000367338.7:c.3575G>C	ENSP00000356307.3:p.Gly1192Ala
NM_000069.2:c.3575G>C	NP_000060.2:p.Gly1192Ala
XM_005245478.2:c.3575G>C	XP_005245535.1:p.Gly1192Ala
XM_005245478.3:c.3575G>C	XP_005245535.1:p.Gly1192Ala
NM_000069.3:c.3575G>C MANE Select	NP_000060.2:p.Gly1192Ala