Canonical Allele Identifier: CA341748661

Gene: AMPD1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1262G>C	ENSP00000358551.4:p.Arg421Pro
ENST00000520113.7:c.1274G>C MANE Select	ENSP00000430075.3:p.Arg425Pro
ENST00000637080.1:c.1057G>C	ENSP00000489753.1:n.1057G>C
ENST00000639077.1:n.939G>C
ENST00000369538.3:c.1361G>C	ENSP00000358551.3:p.Arg454Pro
ENST00000520113.6:c.1373G>C	ENSP00000430075.2:p.Arg458Pro
NM_000036.2:c.1373G>C	NP_000027.2:p.Arg458Pro
NM_001172626.1:c.1361G>C	NP_001166097.1:p.Arg454Pro
NM_000036.3:c.1274G>C MANE Select	NP_000027.3:p.Arg425Pro
NM_001172626.2:c.1262G>C	NP_001166097.2:p.Arg421Pro