Canonical Allele Identifier: CA341752571

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226894A>C (hg19) ; chr1:g.114684273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684273A>C , CM000663.2:g.114684273A>C	GRCh38
NC_000001.10:g.115226894A>C , CM000663.1:g.115226894A>C	GRCh37
NC_000001.9:g.115028417A>C	NCBI36
NG_008012.1:g.16283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.461T>G	ENSP00000358551.4:p.Phe154Cys
ENST00000520113.7:c.473T>G MANE Select	ENSP00000430075.3:p.Phe158Cys
ENST00000637080.1:c.476T>G	ENSP00000489753.1:p.Phe159Cys
ENST00000639077.1:n.138T>G
ENST00000369538.3:c.560T>G	ENSP00000358551.3:p.Phe187Cys
ENST00000485564.3:n.347T>G
ENST00000520113.6:c.572T>G	ENSP00000430075.2:p.Phe191Cys
NM_000036.2:c.572T>G	NP_000027.2:p.Phe191Cys
NM_001172626.1:c.560T>G	NP_001166097.1:p.Phe187Cys
NM_000036.3:c.473T>G MANE Select	NP_000027.3:p.Phe158Cys
NM_001172626.2:c.461T>G	NP_001166097.2:p.Phe154Cys