Canonical Allele Identifier: CA082755
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201053568C>G
GRCh37 chr1:g.201022696C>G
Revel Score:
ENST00000362061 (MANE Select) 0.672
ENST00000367338 0.672
gnomAD v2:
1:201022696 C / G
gnomAD v3:
1:201053568 C / G
gnomAD v4:
chr1-201053568-C-G
Joint Max Group AF 0.00012116 (EAS)
Genomes Max Group AF 0.00016107 (EAS)
Exomes Max Group AF 0.00008249 (EAS)
ClinVar RCV:
RCV002051711
RCV002061992
ClinVar Variation:
496658
dbSNP:
774416016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201053568C>G , CM000663.2:g.201053568C>G GRCh38
NC_000001.10:g.201022696C>G , CM000663.1:g.201022696C>G GRCh37
NC_000001.9:g.199289319C>G NCBI36
NG_009816.1:g.63999G>C
NG_009816.2:g.63999G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3686G>C MANE Select ENSP00000355192.3:p.Arg1229Pro
ENST00000679417.1:c.*2849G>C ENSP00000506706.1:n.*2849G>C
ENST00000680051.1:n.812G>C
ENST00000680059.1:c.*1204G>C ENSP00000504944.1:n.*1204G>C
ENST00000681078.1:c.3686G>C ENSP00000506645.1:p.Arg1229Pro
ENST00000681190.1:c.3686G>C ENSP00000506428.1:p.Arg1229Pro
ENST00000681874.1:c.3626G>C ENSP00000505162.1:p.Arg1209Pro
ENST00000362061.3:c.3686G>C ENSP00000355192.3:p.Arg1229Pro
ENST00000367338.7:c.3629G>C ENSP00000356307.3:p.Arg1210Pro
NM_000069.2:c.3686G>C NP_000060.2:p.Arg1229Pro
XM_005245478.2:c.3629G>C XP_005245535.1:p.Arg1210Pro
XM_005245478.3:c.3629G>C XP_005245535.1:p.Arg1210Pro
NM_000069.3:c.3686G>C MANE Select NP_000060.2:p.Arg1229Pro
Search 100 bp 5'
Search 100 bp 3'