Canonical Allele Identifier: CA341752309

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684213-T-C
• MyVariant Identifiers: chr1:g.115226834T>C (hg19) ; chr1:g.114684213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684213T>C , CM000663.2:g.114684213T>C	GRCh38
NC_000001.10:g.115226834T>C , CM000663.1:g.115226834T>C	GRCh37
NC_000001.9:g.115028357T>C	NCBI36
NG_008012.1:g.16343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.521A>G	ENSP00000358551.4:p.Glu174Gly
ENST00000520113.7:c.533A>G MANE Select	ENSP00000430075.3:p.Glu178Gly
ENST00000637080.1:c.536A>G	ENSP00000489753.1:p.Glu179Gly
ENST00000639077.1:n.198A>G
ENST00000369538.3:c.620A>G	ENSP00000358551.3:p.Glu207Gly
ENST00000485564.3:n.407A>G
ENST00000520113.6:c.632A>G	ENSP00000430075.2:p.Glu211Gly
NM_000036.2:c.632A>G	NP_000027.2:p.Glu211Gly
NM_001172626.1:c.620A>G	NP_001166097.1:p.Glu207Gly
NM_000036.3:c.533A>G MANE Select	NP_000027.3:p.Glu178Gly
NM_001172626.2:c.521A>G	NP_001166097.2:p.Glu174Gly