Canonical Allele Identifier: CA419883087

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220555C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677934C>A , CM000663.2:g.114677934C>A	GRCh38
NC_000001.10:g.115220555C>A , CM000663.1:g.115220555C>A	GRCh37
NC_000001.9:g.115022078C>A	NCBI36
NG_008012.1:g.22622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1188G>T	ENSP00000358551.4:p.Gly396=
ENST00000520113.7:c.1200G>T MANE Select	ENSP00000430075.3:p.Gly400=
ENST00000637080.1:c.983G>T	ENSP00000489753.1:n.983G>T
ENST00000639077.1:n.865G>T
ENST00000369538.3:c.1287G>T	ENSP00000358551.3:p.Gly429=
ENST00000520113.6:c.1299G>T	ENSP00000430075.2:p.Gly433=
NM_000036.2:c.1299G>T	NP_000027.2:p.Gly433=
NM_001172626.1:c.1287G>T	NP_001166097.1:p.Gly429=
NM_000036.3:c.1200G>T MANE Select	NP_000027.3:p.Gly400=
NM_001172626.2:c.1188G>T	NP_001166097.2:p.Gly396=