Canonical Allele Identifier: CA397088074

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876555G>T (hg19) ; chr16:g.88810147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810147G>T , CM000678.2:g.88810147G>T	GRCh38
NC_000016.9:g.88876555G>T , CM000678.1:g.88876555G>T	GRCh37
NC_000016.8:g.87404056G>T	NCBI36
NG_008013.1:g.6788C>A
NG_028266.1:g.11370G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.323C>A MANE Select	ENSP00000367615.3:p.Ala108Asp
ENST00000378364.7:c.323C>A	ENSP00000367615.3:p.Ala108Asp
ENST00000426324.6:c.323C>A	ENSP00000397007.2:p.Ala108Asp
ENST00000562464.1:n.333C>A
ENST00000563655.5:c.242C>A	ENSP00000456012.1:p.Ala81Asp
ENST00000567057.5:n.122C>A
ENST00000567391.5:c.189C>A	ENSP00000457964.1:p.Gly63=
ENST00000567713.5:c.321+276C>A	ENSP00000455749.1:n.321+276C>A
ENST00000568319.5:c.189C>A	ENSP00000456905.1:p.Gly63=
ENST00000568575.1:n.252C>A
ENST00000569616.1:c.321C>A
NM_000485.2:c.323C>A	NP_000476.1:p.Ala108Asp
NM_001030018.1:c.323C>A	NP_001025189.1:p.Ala108Asp
NM_000485.3:c.323C>A MANE Select	NP_000476.1:p.Ala108Asp
NM_001030018.2:c.323C>A	NP_001025189.1:p.Ala108Asp