Canonical Allele Identifier: CA344119445

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1468961569
• gnomAD v2: 1-201046065-G-T
• gnomAD v4: 1-201076937-G-T
• MyVariant Identifiers: chr1:g.201046065G>T (hg19) ; chr1:g.201076937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076937G>T , CM000663.2:g.201076937G>T	GRCh38
NC_000001.10:g.201046065G>T , CM000663.1:g.201046065G>T	GRCh37
NC_000001.9:g.199312688G>T	NCBI36
NG_009816.1:g.40630C>A
NG_009816.2:g.40630C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.1810C>A MANE Select	ENSP00000355192.3:p.Leu604Ile
ENST00000679417.1:c.*973C>A	ENSP00000506706.1:n.*973C>A
ENST00000680059.1:c.1810C>A	ENSP00000504944.1:p.Leu604Ile
ENST00000681078.1:c.1810C>A	ENSP00000506645.1:p.Leu604Ile
ENST00000681190.1:c.1810C>A	ENSP00000506428.1:p.Leu604Ile
ENST00000681874.1:c.1810C>A	ENSP00000505162.1:p.Leu604Ile
ENST00000362061.3:c.1810C>A	ENSP00000355192.3:p.Leu604Ile
ENST00000367338.7:c.1810C>A	ENSP00000356307.3:p.Leu604Ile
NM_000069.2:c.1810C>A	NP_000060.2:p.Leu604Ile
XM_005245478.2:c.1810C>A	XP_005245535.1:p.Leu604Ile
XM_005245478.3:c.1810C>A	XP_005245535.1:p.Leu604Ile
NM_000069.3:c.1810C>A MANE Select	NP_000060.2:p.Leu604Ile