Canonical Allele Identifier: CA35996862

Gene: CACNA1S

Linked Data

• dbSNP Id: rs141204958
• gnomAD v4: 1-201091983-G-T
• MyVariant Identifiers: chr1:g.201061111G>T (hg19) ; chr1:g.201091983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201091983G>T , CM000663.2:g.201091983G>T	GRCh38
NC_000001.10:g.201061111G>T , CM000663.1:g.201061111G>T	GRCh37
NC_000001.9:g.199327734G>T	NCBI36
NG_009816.1:g.25584C>A
NG_009816.2:g.25584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.530C>A MANE Select	ENSP00000355192.3:p.Ser177Ter
ENST00000679417.1:c.530C>A	ENSP00000506706.1:p.Ser177Ter
ENST00000680059.1:c.530C>A	ENSP00000504944.1:p.Ser177Ter
ENST00000681078.1:c.530C>A	ENSP00000506645.1:p.Ser177Ter
ENST00000681190.1:c.530C>A	ENSP00000506428.1:p.Ser177Ter
ENST00000681874.1:c.530C>A	ENSP00000505162.1:p.Ser177Ter
ENST00000362061.3:c.530C>A	ENSP00000355192.3:p.Ser177Ter
ENST00000367338.7:c.530C>A	ENSP00000356307.3:p.Ser177Ter
NM_000069.2:c.530C>A	NP_000060.2:p.Ser177Ter
XM_005245478.2:c.530C>A	XP_005245535.1:p.Ser177Ter
XM_005245478.3:c.530C>A	XP_005245535.1:p.Ser177Ter
NM_000069.3:c.530C>A MANE Select	NP_000060.2:p.Ser177Ter