Canonical Allele Identifier: CA344157477

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1414905226
• gnomAD v2: 1-201027570-C-A
• gnomAD v4: 1-201058442-C-A
• MyVariant Identifiers: chr1:g.201027570C>A (hg19) ; chr1:g.201058442C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3575G>T MANE Select	ENSP00000355192.3:p.Gly1192Val
ENST00000679417.1:c.*2738G>T	ENSP00000506706.1:n.*2738G>T
ENST00000680051.1:n.701G>T
ENST00000680059.1:c.*1093G>T	ENSP00000504944.1:n.*1093G>T
ENST00000681078.1:c.3575G>T	ENSP00000506645.1:p.Gly1192Val
ENST00000681190.1:c.3575G>T	ENSP00000506428.1:p.Gly1192Val
ENST00000681874.1:c.3515G>T	ENSP00000505162.1:p.Gly1172Val
ENST00000362061.3:c.3575G>T	ENSP00000355192.3:p.Gly1192Val
ENST00000367338.7:c.3575G>T	ENSP00000356307.3:p.Gly1192Val
NM_000069.2:c.3575G>T	NP_000060.2:p.Gly1192Val
XM_005245478.2:c.3575G>T	XP_005245535.1:p.Gly1192Val
XM_005245478.3:c.3575G>T	XP_005245535.1:p.Gly1192Val
NM_000069.3:c.3575G>T MANE Select	NP_000060.2:p.Gly1192Val