Canonical Allele Identifier: CA1020412

Gene: AMPD1

Linked Data

• dbSNP Id: rs763093003
• ExAC: 1:115226846 C / T
• gnomAD v2: 1-115226846-C-T
• gnomAD v4: 1-114684225-C-T
• MyVariant Identifiers: chr1:g.115226846C>T (hg19) ; chr1:g.114684225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684225C>T , CM000663.2:g.114684225C>T	GRCh38
NC_000001.10:g.115226846C>T , CM000663.1:g.115226846C>T	GRCh37
NC_000001.9:g.115028369C>T	NCBI36
NG_008012.1:g.16331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.509G>A	ENSP00000358551.4:p.Trp170Ter
ENST00000520113.7:c.521G>A MANE Select	ENSP00000430075.3:p.Trp174Ter
ENST00000637080.1:c.524G>A	ENSP00000489753.1:p.Trp175Ter
ENST00000639077.1:n.186G>A
ENST00000369538.3:c.608G>A	ENSP00000358551.3:p.Trp203Ter
ENST00000485564.3:n.395G>A
ENST00000520113.6:c.620G>A	ENSP00000430075.2:p.Trp207Ter
NM_000036.2:c.620G>A	NP_000027.2:p.Trp207Ter
NM_001172626.1:c.608G>A	NP_001166097.1:p.Trp203Ter
NM_000036.3:c.521G>A MANE Select	NP_000027.3:p.Trp174Ter
NM_001172626.2:c.509G>A	NP_001166097.2:p.Trp170Ter