Canonical Allele Identifier: CA341752574

Gene: AMPD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.461T>A	ENSP00000358551.4:p.Phe154Tyr
ENST00000520113.7:c.473T>A MANE Select	ENSP00000430075.3:p.Phe158Tyr
ENST00000637080.1:c.476T>A	ENSP00000489753.1:p.Phe159Tyr
ENST00000639077.1:n.138T>A
ENST00000369538.3:c.560T>A	ENSP00000358551.3:p.Phe187Tyr
ENST00000485564.3:n.347T>A
ENST00000520113.6:c.572T>A	ENSP00000430075.2:p.Phe191Tyr
NM_000036.2:c.572T>A	NP_000027.2:p.Phe191Tyr
NM_001172626.1:c.560T>A	NP_001166097.1:p.Phe187Tyr
NM_000036.3:c.473T>A MANE Select	NP_000027.3:p.Phe158Tyr
NM_001172626.2:c.461T>A	NP_001166097.2:p.Phe154Tyr