Canonical Allele Identifier: CA419883298

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222281C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679660C>T , CM000663.2:g.114679660C>T	GRCh38
NC_000001.10:g.115222281C>T , CM000663.1:g.115222281C>T	GRCh37
NC_000001.9:g.115023804C>T	NCBI36
NG_008012.1:g.20896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.804G>A	ENSP00000358551.4:p.Gln268=
ENST00000520113.7:c.816G>A MANE Select	ENSP00000430075.3:p.Gln272=
ENST00000637080.1:c.599G>A	ENSP00000489753.1:n.599G>A
ENST00000639077.1:n.481G>A
ENST00000369538.3:c.903G>A	ENSP00000358551.3:p.Gln301=
ENST00000520113.6:c.915G>A	ENSP00000430075.2:p.Gln305=
NM_000036.2:c.915G>A	NP_000027.2:p.Gln305=
NM_001172626.1:c.903G>A	NP_001166097.1:p.Gln301=
NM_000036.3:c.816G>A MANE Select	NP_000027.3:p.Gln272=
NM_001172626.2:c.804G>A	NP_001166097.2:p.Gln268=