Canonical Allele Identifier: CA083377
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201047606C>T
GRCh37 chr1:g.201016734C>T
Revel Score:
ENST00000362061 (MANE Select) 0.340
ENST00000367338 0.340
gnomAD v2:
1:201016734 C / T
gnomAD v3:
1:201047606 C / T
gnomAD v4:
chr1-201047606-C-T
Joint Max Group AF 0.0012269 (SAS)
Genomes Max Group AF 0.00082388 (SAS)
Exomes Max Group AF 0.00120979 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201047606C>T , CM000663.2:g.201047606C>T GRCh38
NC_000001.10:g.201016734C>T , CM000663.1:g.201016734C>T GRCh37
NC_000001.9:g.199283357C>T NCBI36
NG_009816.1:g.69961G>A
NG_009816.2:g.69961G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.4462G>A MANE Select ENSP00000355192.3:p.Glu1488Lys
ENST00000679417.1:c.*3625G>A ENSP00000506706.1:n.*3625G>A
ENST00000680051.1:n.1588G>A
ENST00000680059.1:c.*1980G>A ENSP00000504944.1:n.*1980G>A
ENST00000681078.1:c.*237G>A ENSP00000506645.1:n.*237G>A
ENST00000681190.1:c.*644G>A ENSP00000506428.1:n.*644G>A
ENST00000681874.1:c.4402G>A ENSP00000505162.1:p.Glu1468Lys
ENST00000362061.3:c.4462G>A ENSP00000355192.3:p.Glu1488Lys
ENST00000367338.7:c.4405G>A ENSP00000356307.3:p.Glu1469Lys
NM_000069.2:c.4462G>A NP_000060.2:p.Glu1488Lys
XM_005245478.2:c.4405G>A XP_005245535.1:p.Glu1469Lys
XM_005245478.3:c.4405G>A XP_005245535.1:p.Glu1469Lys
NM_000069.3:c.4462G>A MANE Select NP_000060.2:p.Glu1488Lys
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