Canonical Allele Identifier: CA419883517

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226926A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684305A>T , CM000663.2:g.114684305A>T	GRCh38
NC_000001.10:g.115226926A>T , CM000663.1:g.115226926A>T	GRCh37
NC_000001.9:g.115028449A>T	NCBI36
NG_008012.1:g.16251T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.429T>A	ENSP00000358551.4:p.Arg143=
ENST00000520113.7:c.441T>A MANE Select	ENSP00000430075.3:p.Arg147=
ENST00000637080.1:c.444T>A	ENSP00000489753.1:p.Arg148=
ENST00000639077.1:n.106T>A
ENST00000369538.3:c.528T>A	ENSP00000358551.3:p.Arg176=
ENST00000485564.3:n.315T>A
ENST00000520113.6:c.540T>A	ENSP00000430075.2:p.Arg180=
NM_000036.2:c.540T>A	NP_000027.2:p.Arg180=
NM_001172626.1:c.528T>A	NP_001166097.1:p.Arg176=
NM_000036.3:c.441T>A MANE Select	NP_000027.3:p.Arg147=
NM_001172626.2:c.429T>A	NP_001166097.2:p.Arg143=