Canonical Allele Identifier: CA1020204
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs781073590
COSMIC: COSM390709

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677983G>T , CM000663.2:g.114677983G>T GRCh38
NC_000001.10:g.115220604G>T , CM000663.1:g.115220604G>T GRCh37
NC_000001.9:g.115022127G>T NCBI36
NG_008012.1:g.22573C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1139C>A ENSP00000358551.4:p.Ala380Glu
ENST00000520113.7:c.1151C>A MANE Select ENSP00000430075.3:p.Ala384Glu
ENST00000637080.1:n.934C>A ENSP00000489753.1:n.934C>A
ENST00000639077.1:n.816C>A
ENST00000369538.3:c.1238C>A ENSP00000358551.3:p.Ala413Glu
ENST00000520113.6:c.1250C>A ENSP00000430075.2:p.Ala417Glu
NM_000036.2:c.1250C>A NP_000027.2:p.Ala417Glu
NM_001172626.1:c.1238C>A NP_001166097.1:p.Ala413Glu
NM_000036.3:c.1151C>A MANE Select NP_000027.3:p.Ala384Glu
NM_001172626.2:c.1139C>A NP_001166097.2:p.Ala380Glu