Canonical Allele Identifier: CA341748970
Gene: AMPD1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677924C>G , CM000663.2:g.114677924C>G GRCh38
NC_000001.10:g.115220545C>G , CM000663.1:g.115220545C>G GRCh37
NC_000001.9:g.115022068C>G NCBI36
NG_008012.1:g.22632G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1198G>C ENSP00000358551.4:p.Ala400Pro
ENST00000520113.7:c.1210G>C MANE Select ENSP00000430075.3:p.Ala404Pro
ENST00000637080.1:c.993G>C ENSP00000489753.1:n.993G>C
ENST00000639077.1:n.875G>C
ENST00000369538.3:c.1297G>C ENSP00000358551.3:p.Ala433Pro
ENST00000520113.6:c.1309G>C ENSP00000430075.2:p.Ala437Pro
NM_000036.2:c.1309G>C NP_000027.2:p.Ala437Pro
NM_001172626.1:c.1297G>C NP_001166097.1:p.Ala433Pro
NM_000036.3:c.1210G>C MANE Select NP_000027.3:p.Ala404Pro
NM_001172626.2:c.1198G>C NP_001166097.2:p.Ala400Pro