Canonical Allele Identifier: CA341752716

Gene: AMPD1

Linked Data

• dbSNP Id: rs1364876062
• gnomAD v2: 1-115226931-T-C
• gnomAD v4: 1-114684310-T-C
• MyVariant Identifiers: chr1:g.115226931T>C (hg19) ; chr1:g.114684310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684310T>C , CM000663.2:g.114684310T>C	GRCh38
NC_000001.10:g.115226931T>C , CM000663.1:g.115226931T>C	GRCh37
NC_000001.9:g.115028454T>C	NCBI36
NG_008012.1:g.16246A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.424A>G	ENSP00000358551.4:p.Ile142Val
ENST00000520113.7:c.436A>G MANE Select	ENSP00000430075.3:p.Ile146Val
ENST00000637080.1:c.439A>G	ENSP00000489753.1:p.Ile147Val
ENST00000639077.1:n.101A>G
ENST00000369538.3:c.523A>G	ENSP00000358551.3:p.Ile175Val
ENST00000485564.3:n.310A>G
ENST00000520113.6:c.535A>G	ENSP00000430075.2:p.Ile179Val
NM_000036.2:c.535A>G	NP_000027.2:p.Ile179Val
NM_001172626.1:c.523A>G	NP_001166097.1:p.Ile175Val
NM_000036.3:c.436A>G MANE Select	NP_000027.3:p.Ile146Val
NM_001172626.2:c.424A>G	NP_001166097.2:p.Ile142Val