Canonical Allele Identifier: CA128025
Gene: AMPD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.114677465C>T
GRCh37 chr1:g.115220086C>T
Revel Score:
ENST00000520113 (MANE Select) 0.932
ENST00000369538 0.932
ENST00000353928 0.932
gnomAD v2:
1:115220086 C / T
gnomAD v3:
1:114677465 C / T
gnomAD v4:
chr1-114677465-C-T
Joint Max Group AF 0.00689845 (EAS)
Genomes Max Group AF 0.00724815 (EAS)
Exomes Max Group AF 0.00663708 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677465C>T , CM000663.2:g.114677465C>T GRCh38
NC_000001.10:g.115220086C>T , CM000663.1:g.115220086C>T GRCh37
NC_000001.9:g.115021609C>T NCBI36
NG_008012.1:g.23091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1262G>A ENSP00000358551.4:p.Arg421His
ENST00000520113.7:c.1274G>A MANE Select ENSP00000430075.3:p.Arg425His
ENST00000637080.1:c.1057G>A ENSP00000489753.1:n.1057G>A
ENST00000639077.1:n.939G>A
ENST00000369538.3:c.1361G>A ENSP00000358551.3:p.Arg454His
ENST00000520113.6:c.1373G>A ENSP00000430075.2:p.Arg458His
NM_000036.2:c.1373G>A NP_000027.2:p.Arg458His
NM_001172626.1:c.1361G>A NP_001166097.1:p.Arg454His
NM_000036.3:c.1274G>A MANE Select NP_000027.3:p.Arg425His
NM_001172626.2:c.1262G>A NP_001166097.2:p.Arg421His
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