Canonical Allele Identifier: CA341752855

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226972T>G (hg19) ; chr1:g.114684351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684351T>G , CM000663.2:g.114684351T>G	GRCh38
NC_000001.10:g.115226972T>G , CM000663.1:g.115226972T>G	GRCh37
NC_000001.9:g.115028495T>G	NCBI36
NG_008012.1:g.16205A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.383A>C	ENSP00000358551.4:p.Asp128Ala
ENST00000520113.7:c.395A>C MANE Select	ENSP00000430075.3:p.Asp132Ala
ENST00000637080.1:c.398A>C	ENSP00000489753.1:p.Asp133Ala
ENST00000639077.1:n.60A>C
ENST00000369538.3:c.482A>C	ENSP00000358551.3:p.Asp161Ala
ENST00000485564.3:n.269A>C
ENST00000520113.6:c.494A>C	ENSP00000430075.2:p.Asp165Ala
NM_000036.2:c.494A>C	NP_000027.2:p.Asp165Ala
NM_001172626.1:c.482A>C	NP_001166097.1:p.Asp161Ala
NM_000036.3:c.395A>C MANE Select	NP_000027.3:p.Asp132Ala
NM_001172626.2:c.383A>C	NP_001166097.2:p.Asp128Ala