Canonical Allele Identifier: CA341748510

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1719558
• ClinVar RCV Id: RCV002303812
• gnomAD v4: 1-114677420-G-T
• MyVariant Identifiers: chr1:g.115220041G>T (hg19) ; chr1:g.114677420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677420G>T , CM000663.2:g.114677420G>T	GRCh38
NC_000001.10:g.115220041G>T , CM000663.1:g.115220041G>T	GRCh37
NC_000001.9:g.115021564G>T	NCBI36
NG_008012.1:g.23136C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1307C>A	ENSP00000358551.4:p.Ser436Tyr
ENST00000520113.7:c.1319C>A MANE Select	ENSP00000430075.3:p.Ser440Tyr
ENST00000637080.1:c.1102C>A	ENSP00000489753.1:n.1102C>A
ENST00000639077.1:n.984C>A
ENST00000369538.3:c.1406C>A	ENSP00000358551.3:p.Ser469Tyr
ENST00000520113.6:c.1418C>A	ENSP00000430075.2:p.Ser473Tyr
NM_000036.2:c.1418C>A	NP_000027.2:p.Ser473Tyr
NM_001172626.1:c.1406C>A	NP_001166097.1:p.Ser469Tyr
NM_000036.3:c.1319C>A MANE Select	NP_000027.3:p.Ser440Tyr
NM_001172626.2:c.1307C>A	NP_001166097.2:p.Ser436Tyr