Canonical Allele Identifier: CA341752368

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684228-G-A
• MyVariant Identifiers: chr1:g.115226849G>A (hg19) ; chr1:g.114684228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684228G>A , CM000663.2:g.114684228G>A	GRCh38
NC_000001.10:g.115226849G>A , CM000663.1:g.115226849G>A	GRCh37
NC_000001.9:g.115028372G>A	NCBI36
NG_008012.1:g.16328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.506C>T	ENSP00000358551.4:p.Ala169Val
ENST00000520113.7:c.518C>T MANE Select	ENSP00000430075.3:p.Ala173Val
ENST00000637080.1:c.521C>T	ENSP00000489753.1:p.Ala174Val
ENST00000639077.1:n.183C>T
ENST00000369538.3:c.605C>T	ENSP00000358551.3:p.Ala202Val
ENST00000485564.3:n.392C>T
ENST00000520113.6:c.617C>T	ENSP00000430075.2:p.Ala206Val
NM_000036.2:c.617C>T	NP_000027.2:p.Ala206Val
NM_001172626.1:c.605C>T	NP_001166097.1:p.Ala202Val
NM_000036.3:c.518C>T MANE Select	NP_000027.3:p.Ala173Val
NM_001172626.2:c.506C>T	NP_001166097.2:p.Ala169Val