Canonical Allele Identifier: CA341752739

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226939G>C (hg19) ; chr1:g.114684318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684318G>C , CM000663.2:g.114684318G>C	GRCh38
NC_000001.10:g.115226939G>C , CM000663.1:g.115226939G>C	GRCh37
NC_000001.9:g.115028462G>C	NCBI36
NG_008012.1:g.16238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.416C>G	ENSP00000358551.4:p.Ala139Gly
ENST00000520113.7:c.428C>G MANE Select	ENSP00000430075.3:p.Ala143Gly
ENST00000637080.1:c.431C>G	ENSP00000489753.1:p.Ala144Gly
ENST00000639077.1:n.93C>G
ENST00000369538.3:c.515C>G	ENSP00000358551.3:p.Ala172Gly
ENST00000485564.3:n.302C>G
ENST00000520113.6:c.527C>G	ENSP00000430075.2:p.Ala176Gly
NM_000036.2:c.527C>G	NP_000027.2:p.Ala176Gly
NM_001172626.1:c.515C>G	NP_001166097.1:p.Ala172Gly
NM_000036.3:c.428C>G MANE Select	NP_000027.3:p.Ala143Gly
NM_001172626.2:c.416C>G	NP_001166097.2:p.Ala139Gly