Canonical Allele Identifier: CA419882737

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114675547C>A , CM000663.2:g.114675547C>A	GRCh38
NC_000001.10:g.115218168C>A , CM000663.1:g.115218168C>A	GRCh37
NC_000001.9:g.115019691C>A	NCBI36
NG_008012.1:g.25009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1650G>T	ENSP00000358551.4:p.Val550=
ENST00000520113.7:c.1662G>T MANE Select	ENSP00000430075.3:p.Val554=
ENST00000637080.1:c.1445G>T	ENSP00000489753.1:n.1445G>T
ENST00000638214.1:n.692G>T
ENST00000639077.1:n.1184G>T
ENST00000639274.1:n.292G>T
ENST00000369538.3:c.1749G>T	ENSP00000358551.3:p.Val583=
ENST00000520113.6:c.1761G>T	ENSP00000430075.2:p.Val587=
NM_000036.2:c.1761G>T	NP_000027.2:p.Val587=
NM_001172626.1:c.1749G>T	NP_001166097.1:p.Val583=
NM_000036.3:c.1662G>T MANE Select	NP_000027.3:p.Val554=
NM_001172626.2:c.1650G>T	NP_001166097.2:p.Val550=