Canonical Allele Identifier: CA341748689

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220096C>T (hg19) ; chr1:g.114677475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677475C>T , CM000663.2:g.114677475C>T	GRCh38
NC_000001.10:g.115220096C>T , CM000663.1:g.115220096C>T	GRCh37
NC_000001.9:g.115021619C>T	NCBI36
NG_008012.1:g.23081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1252G>A	ENSP00000358551.4:p.Ala418Thr
ENST00000520113.7:c.1264G>A MANE Select	ENSP00000430075.3:p.Ala422Thr
ENST00000637080.1:c.1047G>A	ENSP00000489753.1:n.1047G>A
ENST00000639077.1:n.929G>A
ENST00000369538.3:c.1351G>A	ENSP00000358551.3:p.Ala451Thr
ENST00000520113.6:c.1363G>A	ENSP00000430075.2:p.Ala455Thr
NM_000036.2:c.1363G>A	NP_000027.2:p.Ala455Thr
NM_001172626.1:c.1351G>A	NP_001166097.1:p.Ala451Thr
NM_000036.3:c.1264G>A MANE Select	NP_000027.3:p.Ala422Thr
NM_001172626.2:c.1252G>A	NP_001166097.2:p.Ala418Thr