Canonical Allele Identifier: CA344116943

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075558-C-A
• MyVariant Identifiers: chr1:g.201044686C>A (hg19) ; chr1:g.201075558C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075558C>A , CM000663.2:g.201075558C>A	GRCh38
NC_000001.10:g.201044686C>A , CM000663.1:g.201044686C>A	GRCh37
NC_000001.9:g.199311309C>A	NCBI36
NG_009816.1:g.42009G>T
NG_009816.2:g.42009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1885G>T MANE Select	ENSP00000355192.3:p.Gly629Trp
ENST00000679417.1:c.*1048G>T	ENSP00000506706.1:n.*1048G>T
ENST00000680059.1:c.1885G>T	ENSP00000504944.1:p.Gly629Trp
ENST00000681078.1:c.1885G>T	ENSP00000506645.1:p.Gly629Trp
ENST00000681190.1:c.1885G>T	ENSP00000506428.1:p.Gly629Trp
ENST00000681874.1:c.1885G>T	ENSP00000505162.1:p.Gly629Trp
ENST00000362061.3:c.1885G>T	ENSP00000355192.3:p.Gly629Trp
ENST00000367338.7:c.1885G>T	ENSP00000356307.3:p.Gly629Trp
NM_000069.2:c.1885G>T	NP_000060.2:p.Gly629Trp
XM_005245478.2:c.1885G>T	XP_005245535.1:p.Gly629Trp
XM_005245478.3:c.1885G>T	XP_005245535.1:p.Gly629Trp
NM_000069.3:c.1885G>T MANE Select	NP_000060.2:p.Gly629Trp