Canonical Allele Identifier: CA397087971

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876534T>G (hg19) ; chr16:g.88810126T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810126T>G , CM000678.2:g.88810126T>G	GRCh38
NC_000016.9:g.88876534T>G , CM000678.1:g.88876534T>G	GRCh37
NC_000016.8:g.87404035T>G	NCBI36
NG_008013.1:g.6809A>C
NG_028266.1:g.11349T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.344A>C MANE Select	ENSP00000367615.3:p.Asp115Ala
ENST00000378364.7:c.344A>C	ENSP00000367615.3:p.Asp115Ala
ENST00000426324.6:c.344A>C	ENSP00000397007.2:p.Asp115Ala
ENST00000562464.1:n.354A>C
ENST00000563655.5:c.263A>C	ENSP00000456012.1:p.Asp88Ala
ENST00000567057.5:n.143A>C
ENST00000567391.5:c.*18A>C	ENSP00000457964.1:n.*18A>C
ENST00000567713.5:c.321+297A>C	ENSP00000455749.1:n.321+297A>C
ENST00000568319.5:c.*18A>C	ENSP00000456905.1:n.*18A>C
ENST00000568575.1:n.273A>C
ENST00000569616.1:c.342A>C
NM_000485.2:c.344A>C	NP_000476.1:p.Asp115Ala
NM_001030018.1:c.344A>C	NP_001025189.1:p.Asp115Ala
NM_000485.3:c.344A>C MANE Select	NP_000476.1:p.Asp115Ala
NM_001030018.2:c.344A>C	NP_001025189.1:p.Asp115Ala