Canonical Allele Identifier: CA341752419

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226857A>C (hg19) ; chr1:g.114684236A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684236A>C , CM000663.2:g.114684236A>C	GRCh38
NC_000001.10:g.115226857A>C , CM000663.1:g.115226857A>C	GRCh37
NC_000001.9:g.115028380A>C	NCBI36
NG_008012.1:g.16320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.498T>G	ENSP00000358551.4:p.Asp166Glu
ENST00000520113.7:c.510T>G MANE Select	ENSP00000430075.3:p.Asp170Glu
ENST00000637080.1:c.513T>G	ENSP00000489753.1:p.Asp171Glu
ENST00000639077.1:n.175T>G
ENST00000369538.3:c.597T>G	ENSP00000358551.3:p.Asp199Glu
ENST00000485564.3:n.384T>G
ENST00000520113.6:c.609T>G	ENSP00000430075.2:p.Asp203Glu
NM_000036.2:c.609T>G	NP_000027.2:p.Asp203Glu
NM_001172626.1:c.597T>G	NP_001166097.1:p.Asp199Glu
NM_000036.3:c.510T>G MANE Select	NP_000027.3:p.Asp170Glu
NM_001172626.2:c.498T>G	NP_001166097.2:p.Asp166Glu