Canonical Allele Identifier: CA341752874

Gene: AMPD1

Linked Data

• COSMIC: COSM1182699 ; COSM1182700
• MyVariant Identifiers: chr1:g.115226978A>G (hg19) ; chr1:g.114684357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684357A>G , CM000663.2:g.114684357A>G	GRCh38
NC_000001.10:g.115226978A>G , CM000663.1:g.115226978A>G	GRCh37
NC_000001.9:g.115028501A>G	NCBI36
NG_008012.1:g.16199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.377T>C	ENSP00000358551.4:p.Val126Ala
ENST00000520113.7:c.389T>C MANE Select	ENSP00000430075.3:p.Val130Ala
ENST00000637080.1:c.392T>C	ENSP00000489753.1:p.Val131Ala
ENST00000639077.1:n.54T>C
ENST00000369538.3:c.476T>C	ENSP00000358551.3:p.Val159Ala
ENST00000485564.3:n.263T>C
ENST00000520113.6:c.488T>C	ENSP00000430075.2:p.Val163Ala
NM_000036.2:c.488T>C	NP_000027.2:p.Val163Ala
NM_001172626.1:c.476T>C	NP_001166097.1:p.Val159Ala
NM_000036.3:c.389T>C MANE Select	NP_000027.3:p.Val130Ala
NM_001172626.2:c.377T>C	NP_001166097.2:p.Val126Ala