Canonical Allele Identifier: CA078993
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201069522C>T
GRCh37 chr1:g.201038650C>T
Revel Score:
ENST00000362061 (MANE Select) 0.302
ENST00000367338 0.302
gnomAD v2:
1:201038650 C / T
gnomAD v3:
1:201069522 C / T
gnomAD v4:
chr1-201069522-C-T
Joint Max Group AF 0.00228786 (NFE)
Genomes Max Group AF 0.00206785 (NFE)
Exomes Max Group AF 0.00228485 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201069522C>T , CM000663.2:g.201069522C>T GRCh38
NC_000001.10:g.201038650C>T , CM000663.1:g.201038650C>T GRCh37
NC_000001.9:g.199305273C>T NCBI36
NG_009816.1:g.48045G>A
NG_009816.2:g.48045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.2440G>A MANE Select ENSP00000355192.3:p.Ala814Thr
ENST00000679417.1:c.*1603G>A ENSP00000506706.1:n.*1603G>A
ENST00000680059.1:c.2466G>A ENSP00000504944.1:p.Ala822=
ENST00000681078.1:c.2440G>A ENSP00000506645.1:p.Ala814Thr
ENST00000681190.1:c.2440G>A ENSP00000506428.1:p.Ala814Thr
ENST00000681874.1:c.2440G>A ENSP00000505162.1:p.Ala814Thr
ENST00000362061.3:c.2440G>A ENSP00000355192.3:p.Ala814Thr
ENST00000367338.7:c.2440G>A ENSP00000356307.3:p.Ala814Thr
NM_000069.2:c.2440G>A NP_000060.2:p.Ala814Thr
XM_005245478.2:c.2440G>A XP_005245535.1:p.Ala814Thr
XM_005245478.3:c.2440G>A XP_005245535.1:p.Ala814Thr
NM_000069.3:c.2440G>A MANE Select NP_000060.2:p.Ala814Thr
Search 100 bp 5'
Search 100 bp 3'