Canonical Allele Identifier: CA078019
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201085016T>A
GRCh37 chr1:g.201054144T>A
Revel Score:
ENST00000362061 (MANE Select) 0.277
ENST00000367338 0.277
gnomAD v2:
1:201054144 T / A
gnomAD v3:
1:201085016 T / A
gnomAD v4:
chr1-201085016-T-A
Joint Max Group AF 0.0003353 (MID)
Genomes Max Group AF 0.00012404 (NFE)
Exomes Max Group AF 0.00035444 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201085016T>A , CM000663.2:g.201085016T>A GRCh38
NC_000001.10:g.201054144T>A , CM000663.1:g.201054144T>A GRCh37
NC_000001.9:g.199320767T>A NCBI36
NG_009816.1:g.32551A>T
NG_009816.2:g.32551A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1166A>T MANE Select ENSP00000355192.3:p.Asp389Val
ENST00000679417.1:c.*329A>T ENSP00000506706.1:n.*329A>T
ENST00000680059.1:c.1166A>T ENSP00000504944.1:p.Asp389Val
ENST00000681078.1:c.1166A>T ENSP00000506645.1:p.Asp389Val
ENST00000681190.1:c.1166A>T ENSP00000506428.1:p.Asp389Val
ENST00000681874.1:c.1166A>T ENSP00000505162.1:p.Asp389Val
ENST00000362061.3:c.1166A>T ENSP00000355192.3:p.Asp389Val
ENST00000367338.7:c.1166A>T ENSP00000356307.3:p.Asp389Val
NM_000069.2:c.1166A>T NP_000060.2:p.Asp389Val
XM_005245478.2:c.1166A>T XP_005245535.1:p.Asp389Val
XM_005245478.3:c.1166A>T XP_005245535.1:p.Asp389Val
NM_000069.3:c.1166A>T MANE Select NP_000060.2:p.Asp389Val
Search 100 bp 5'
Search 100 bp 3'