Canonical Allele Identifier: CA419883030

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220070G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677449G>A , CM000663.2:g.114677449G>A	GRCh38
NC_000001.10:g.115220070G>A , CM000663.1:g.115220070G>A	GRCh37
NC_000001.9:g.115021593G>A	NCBI36
NG_008012.1:g.23107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1278C>T	ENSP00000358551.4:p.Gly426=
ENST00000520113.7:c.1290C>T MANE Select	ENSP00000430075.3:p.Gly430=
ENST00000637080.1:c.1073C>T	ENSP00000489753.1:n.1073C>T
ENST00000639077.1:n.955C>T
ENST00000369538.3:c.1377C>T	ENSP00000358551.3:p.Gly459=
ENST00000520113.6:c.1389C>T	ENSP00000430075.2:p.Gly463=
NM_000036.2:c.1389C>T	NP_000027.2:p.Gly463=
NM_001172626.1:c.1377C>T	NP_001166097.1:p.Gly459=
NM_000036.3:c.1290C>T MANE Select	NP_000027.3:p.Gly430=
NM_001172626.2:c.1278C>T	NP_001166097.2:p.Gly426=