Canonical Allele Identifier: CA419883003

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220019G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677398G>T , CM000663.2:g.114677398G>T	GRCh38
NC_000001.10:g.115220019G>T , CM000663.1:g.115220019G>T	GRCh37
NC_000001.9:g.115021542G>T	NCBI36
NG_008012.1:g.23158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1329C>A	ENSP00000358551.4:p.Arg443=
ENST00000520113.7:c.1341C>A MANE Select	ENSP00000430075.3:p.Arg447=
ENST00000637080.1:c.1124C>A	ENSP00000489753.1:n.1124C>A
ENST00000639077.1:n.1006C>A
ENST00000369538.3:c.1428C>A	ENSP00000358551.3:p.Arg476=
ENST00000520113.6:c.1440C>A	ENSP00000430075.2:p.Arg480=
NM_000036.2:c.1440C>A	NP_000027.2:p.Arg480=
NM_001172626.1:c.1428C>A	NP_001166097.1:p.Arg476=
NM_000036.3:c.1341C>A MANE Select	NP_000027.3:p.Arg447=
NM_001172626.2:c.1329C>A	NP_001166097.2:p.Arg443=