Canonical Allele Identifier: CA397087918

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876525T>G (hg19) ; chr16:g.88810117T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810117T>G , CM000678.2:g.88810117T>G	GRCh38
NC_000016.9:g.88876525T>G , CM000678.1:g.88876525T>G	GRCh37
NC_000016.8:g.87404026T>G	NCBI36
NG_008013.1:g.6818A>C
NG_028266.1:g.11340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.353A>C MANE Select	ENSP00000367615.3:p.Glu118Ala
ENST00000378364.7:c.353A>C	ENSP00000367615.3:p.Glu118Ala
ENST00000426324.6:c.353A>C	ENSP00000397007.2:p.Glu118Ala
ENST00000562464.1:n.363A>C
ENST00000563655.5:c.272A>C	ENSP00000456012.1:p.Glu91Ala
ENST00000567057.5:n.152A>C
ENST00000567391.5:c.*27A>C	ENSP00000457964.1:n.*27A>C
ENST00000567713.5:c.321+306A>C	ENSP00000455749.1:n.321+306A>C
ENST00000568319.5:c.*27A>C	ENSP00000456905.1:n.*27A>C
ENST00000568575.1:n.282A>C
ENST00000569616.1:c.351A>C
NM_000485.2:c.353A>C	NP_000476.1:p.Glu118Ala
NM_001030018.1:c.353A>C	NP_001025189.1:p.Glu118Ala
NM_000485.3:c.353A>C MANE Select	NP_000476.1:p.Glu118Ala
NM_001030018.2:c.353A>C	NP_001025189.1:p.Glu118Ala