Canonical Allele Identifier: CA341752224

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226822G>T (hg19) ; chr1:g.114684201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684201G>T , CM000663.2:g.114684201G>T	GRCh38
NC_000001.10:g.115226822G>T , CM000663.1:g.115226822G>T	GRCh37
NC_000001.9:g.115028345G>T	NCBI36
NG_008012.1:g.16355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.533C>A	ENSP00000358551.4:p.Pro178Gln
ENST00000520113.7:c.545C>A MANE Select	ENSP00000430075.3:p.Pro182Gln
ENST00000637080.1:c.548C>A	ENSP00000489753.1:p.Pro183Gln
ENST00000639077.1:n.210C>A
ENST00000369538.3:c.632C>A	ENSP00000358551.3:p.Pro211Gln
ENST00000485564.3:n.419C>A
ENST00000520113.6:c.644C>A	ENSP00000430075.2:p.Pro215Gln
NM_000036.2:c.644C>A	NP_000027.2:p.Pro215Gln
NM_001172626.1:c.632C>A	NP_001166097.1:p.Pro211Gln
NM_000036.3:c.545C>A MANE Select	NP_000027.3:p.Pro182Gln
NM_001172626.2:c.533C>A	NP_001166097.2:p.Pro178Gln