Canonical Allele Identifier: CA2649760953

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201060536-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060536G>T , CM000663.2:g.201060536G>T	GRCh38
NC_000001.10:g.201029664G>T , CM000663.1:g.201029664G>T	GRCh37
NC_000001.9:g.199296287G>T	NCBI36
NG_009816.1:g.57031C>A
NG_009816.2:g.57031C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3414+122C>A MANE Select	ENSP00000355192.3:n.3414+122C>A
ENST00000679417.1:c.*2577+122C>A	ENSP00000506706.1:n.*2577+122C>A
ENST00000680051.1:n.540+122C>A
ENST00000680059.1:c.*932+122C>A	ENSP00000504944.1:n.*932+122C>A
ENST00000681078.1:c.3414+122C>A	ENSP00000506645.1:n.3414+122C>A
ENST00000681190.1:c.3414+122C>A	ENSP00000506428.1:n.3414+122C>A
ENST00000681874.1:c.3354+122C>A	ENSP00000505162.1:n.3354+122C>A
ENST00000362061.3:c.3414+122C>A	ENSP00000355192.3:n.3414+122C>A
ENST00000367338.7:c.3414+122C>A	ENSP00000356307.3:n.3414+122C>A
NM_000069.2:c.3414+122C>A	NP_000060.2:n.3414+122C>A
XM_005245478.2:c.3414+122C>A	XP_005245535.1:n.3414+122C>A
XM_005245478.3:c.3414+122C>A	XP_005245535.1:n.3414+122C>A
NM_000069.3:c.3414+122C>A MANE Select	NP_000060.2:n.3414+122C>A