Canonical Allele Identifier: CA341748579

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2048124
• ClinVar RCV Id: RCV002918560
• dbSNP Id: rs1489333623
• gnomAD v3: 1-114677437-A-T
• gnomAD v4: 1-114677437-A-T
• MyVariant Identifiers: chr1:g.115220058A>T (hg19) ; chr1:g.114677437A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677437A>T , CM000663.2:g.114677437A>T	GRCh38
NC_000001.10:g.115220058A>T , CM000663.1:g.115220058A>T	GRCh37
NC_000001.9:g.115021581A>T	NCBI36
NG_008012.1:g.23119T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1290T>A	ENSP00000358551.4:p.Asp430Glu
ENST00000520113.7:c.1302T>A MANE Select	ENSP00000430075.3:p.Asp434Glu
ENST00000637080.1:c.1085T>A	ENSP00000489753.1:n.1085T>A
ENST00000639077.1:n.967T>A
ENST00000369538.3:c.1389T>A	ENSP00000358551.3:p.Asp463Glu
ENST00000520113.6:c.1401T>A	ENSP00000430075.2:p.Asp467Glu
NM_000036.2:c.1401T>A	NP_000027.2:p.Asp467Glu
NM_001172626.1:c.1389T>A	NP_001166097.1:p.Asp463Glu
NM_000036.3:c.1302T>A MANE Select	NP_000027.3:p.Asp434Glu
NM_001172626.2:c.1290T>A	NP_001166097.2:p.Asp430Glu