Canonical Allele Identifier: CA2696723108

Gene: AMPD1

Linked Data

• dbSNP Id: rs2101720308

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684313dup , CM000663.2:g.114684313dup	GRCh38
NC_000001.10:g.115226934dup , CM000663.1:g.115226934dup	GRCh37
NC_000001.9:g.115028457dup	NCBI36
NG_008012.1:g.16243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.421dup	ENSP00000358551.4:p.Cys141LeufsTer4
ENST00000520113.7:c.433dup MANE Select	ENSP00000430075.3:p.Cys145LeufsTer4
ENST00000637080.1:c.436dup	ENSP00000489753.1:p.Cys146LeufsTer4
ENST00000639077.1:n.98dup
ENST00000369538.3:c.520dup	ENSP00000358551.3:p.Cys174LeufsTer4
ENST00000485564.3:n.307dup
ENST00000520113.6:c.532dup	ENSP00000430075.2:p.Cys178LeufsTer4
NM_000036.2:c.532dup	NP_000027.2:p.Cys178LeufsTer4
NM_001172626.1:c.520dup	NP_001166097.1:p.Cys174LeufsTer4
NM_000036.3:c.433dup MANE Select	NP_000027.3:p.Cys145LeufsTer4
NM_001172626.2:c.421dup	NP_001166097.2:p.Cys141LeufsTer4