Canonical Allele Identifier: CA341752862

Gene: AMPD1

Linked Data

• COSMIC: COSM1639449 ; COSM1639450
• MyVariant Identifiers: chr1:g.115226974T>G (hg19) ; chr1:g.114684353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684353T>G , CM000663.2:g.114684353T>G	GRCh38
NC_000001.10:g.115226974T>G , CM000663.1:g.115226974T>G	GRCh37
NC_000001.9:g.115028497T>G	NCBI36
NG_008012.1:g.16203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.381A>C	ENSP00000358551.4:p.Glu127Asp
ENST00000520113.7:c.393A>C MANE Select	ENSP00000430075.3:p.Glu131Asp
ENST00000637080.1:c.396A>C	ENSP00000489753.1:p.Glu132Asp
ENST00000639077.1:n.58A>C
ENST00000369538.3:c.480A>C	ENSP00000358551.3:p.Glu160Asp
ENST00000485564.3:n.267A>C
ENST00000520113.6:c.492A>C	ENSP00000430075.2:p.Glu164Asp
NM_000036.2:c.492A>C	NP_000027.2:p.Glu164Asp
NM_001172626.1:c.480A>C	NP_001166097.1:p.Glu160Asp
NM_000036.3:c.393A>C MANE Select	NP_000027.3:p.Glu131Asp
NM_001172626.2:c.381A>C	NP_001166097.2:p.Glu127Asp