Canonical Allele Identifier: CA1019907

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2139645
• ClinVar RCV Id: RCV003052703
• dbSNP Id: rs142643298
• ExAC: 1:115215796 C / T
• gnomAD v2: 1-115215796-C-T
• gnomAD v3: 1-114673175-C-T
• gnomAD v4: 1-114673175-C-T
• COSMIC: COSM201765 ; COSM3688910
• MyVariant Identifiers: chr1:g.115215796C>T (hg19) ; chr1:g.114673175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673175C>T , CM000663.2:g.114673175C>T	GRCh38
NC_000001.10:g.115215796C>T , CM000663.1:g.115215796C>T	GRCh37
NC_000001.9:g.115017319C>T	NCBI36
NG_008012.1:g.27381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2171G>A	ENSP00000358551.4:p.Arg724His
ENST00000520113.7:c.2183G>A MANE Select	ENSP00000430075.3:p.Arg728His
ENST00000637080.1:c.1966G>A	ENSP00000489753.1:n.1966G>A
ENST00000369538.3:c.2270G>A	ENSP00000358551.3:p.Arg757His
ENST00000520113.6:c.2282G>A	ENSP00000430075.2:p.Arg761His
NM_000036.2:c.2282G>A	NP_000027.2:p.Arg761His
NM_001172626.1:c.2270G>A	NP_001166097.1:p.Arg757His
NM_000036.3:c.2183G>A MANE Select	NP_000027.3:p.Arg728His
NM_001172626.2:c.2171G>A	NP_001166097.2:p.Arg724His