Canonical Allele Identifier: CA341749087
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677975G>C , CM000663.2:g.114677975G>C GRCh38
NC_000001.10:g.115220596G>C , CM000663.1:g.115220596G>C GRCh37
NC_000001.9:g.115022119G>C NCBI36
NG_008012.1:g.22581C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1147C>G ENSP00000358551.4:p.Leu383Val
ENST00000520113.7:c.1159C>G MANE Select ENSP00000430075.3:p.Leu387Val
ENST00000637080.1:n.942C>G ENSP00000489753.1:n.942C>G
ENST00000639077.1:n.824C>G
ENST00000369538.3:c.1246C>G ENSP00000358551.3:p.Leu416Val
ENST00000520113.6:c.1258C>G ENSP00000430075.2:p.Leu420Val
NM_000036.2:c.1258C>G NP_000027.2:p.Leu420Val
NM_001172626.1:c.1246C>G NP_001166097.1:p.Leu416Val
NM_000036.3:c.1159C>G MANE Select NP_000027.3:p.Leu387Val
NM_001172626.2:c.1147C>G NP_001166097.2:p.Leu383Val