Canonical Allele Identifier: CA079662

Gene: CACNA1S

Linked Data

• dbSNP Id: rs755719522
• ExAC: 1:201029762 A / C
• gnomAD v2: 1-201029762-A-C
• MyVariant Identifiers: chr1:g.201029762A>C (hg19) ; chr1:g.201060634A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060634A>C , CM000663.2:g.201060634A>C	GRCh38
NC_000001.10:g.201029762A>C , CM000663.1:g.201029762A>C	GRCh37
NC_000001.9:g.199296385A>C	NCBI36
NG_009816.1:g.56933T>G
NG_009816.2:g.56933T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3414+24T>G MANE Select	ENSP00000355192.3:n.3414+24T>G
ENST00000679417.1:c.*2577+24T>G	ENSP00000506706.1:n.*2577+24T>G
ENST00000680051.1:n.540+24T>G
ENST00000680059.1:c.*932+24T>G	ENSP00000504944.1:n.*932+24T>G
ENST00000681078.1:c.3414+24T>G	ENSP00000506645.1:n.3414+24T>G
ENST00000681190.1:c.3414+24T>G	ENSP00000506428.1:n.3414+24T>G
ENST00000681874.1:c.3354+24T>G	ENSP00000505162.1:n.3354+24T>G
ENST00000362061.3:c.3414+24T>G	ENSP00000355192.3:n.3414+24T>G
ENST00000367338.7:c.3414+24T>G	ENSP00000356307.3:n.3414+24T>G
NM_000069.2:c.3414+24T>G	NP_000060.2:n.3414+24T>G
XM_005245478.2:c.3414+24T>G	XP_005245535.1:n.3414+24T>G
XM_005245478.3:c.3414+24T>G	XP_005245535.1:n.3414+24T>G
NM_000069.3:c.3414+24T>G MANE Select	NP_000060.2:n.3414+24T>G