Canonical Allele Identifier: CA341752381

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226850C>T (hg19) ; chr1:g.114684229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684229C>T , CM000663.2:g.114684229C>T	GRCh38
NC_000001.10:g.115226850C>T , CM000663.1:g.115226850C>T	GRCh37
NC_000001.9:g.115028373C>T	NCBI36
NG_008012.1:g.16327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.505G>A	ENSP00000358551.4:p.Ala169Thr
ENST00000520113.7:c.517G>A MANE Select	ENSP00000430075.3:p.Ala173Thr
ENST00000637080.1:c.520G>A	ENSP00000489753.1:p.Ala174Thr
ENST00000639077.1:n.182G>A
ENST00000369538.3:c.604G>A	ENSP00000358551.3:p.Ala202Thr
ENST00000485564.3:n.391G>A
ENST00000520113.6:c.616G>A	ENSP00000430075.2:p.Ala206Thr
NM_000036.2:c.616G>A	NP_000027.2:p.Ala206Thr
NM_001172626.1:c.604G>A	NP_001166097.1:p.Ala202Thr
NM_000036.3:c.517G>A MANE Select	NP_000027.3:p.Ala173Thr
NM_001172626.2:c.505G>A	NP_001166097.2:p.Ala169Thr