Canonical Allele Identifier: CA341752383

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226851C>G (hg19) ; chr1:g.114684230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684230C>G , CM000663.2:g.114684230C>G	GRCh38
NC_000001.10:g.115226851C>G , CM000663.1:g.115226851C>G	GRCh37
NC_000001.9:g.115028374C>G	NCBI36
NG_008012.1:g.16326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.504G>C	ENSP00000358551.4:p.Glu168Asp
ENST00000520113.7:c.516G>C MANE Select	ENSP00000430075.3:p.Glu172Asp
ENST00000637080.1:c.519G>C	ENSP00000489753.1:p.Glu173Asp
ENST00000639077.1:n.181G>C
ENST00000369538.3:c.603G>C	ENSP00000358551.3:p.Glu201Asp
ENST00000485564.3:n.390G>C
ENST00000520113.6:c.615G>C	ENSP00000430075.2:p.Glu205Asp
NM_000036.2:c.615G>C	NP_000027.2:p.Glu205Asp
NM_001172626.1:c.603G>C	NP_001166097.1:p.Glu201Asp
NM_000036.3:c.516G>C MANE Select	NP_000027.3:p.Glu172Asp
NM_001172626.2:c.504G>C	NP_001166097.2:p.Glu168Asp