Canonical Allele Identifier: CA397087912

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876524C>G (hg19) ; chr16:g.88810116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810116C>G , CM000678.2:g.88810116C>G	GRCh38
NC_000016.9:g.88876524C>G , CM000678.1:g.88876524C>G	GRCh37
NC_000016.8:g.87404025C>G	NCBI36
NG_008013.1:g.6819G>C
NG_028266.1:g.11339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.354G>C MANE Select	ENSP00000367615.3:p.Glu118Asp
ENST00000378364.7:c.354G>C	ENSP00000367615.3:p.Glu118Asp
ENST00000426324.6:c.354G>C	ENSP00000397007.2:p.Glu118Asp
ENST00000562464.1:n.364G>C
ENST00000563655.5:c.273G>C	ENSP00000456012.1:p.Glu91Asp
ENST00000567057.5:n.153G>C
ENST00000567391.5:c.*28G>C	ENSP00000457964.1:n.*28G>C
ENST00000567713.5:c.321+307G>C	ENSP00000455749.1:n.321+307G>C
ENST00000568319.5:c.*28G>C	ENSP00000456905.1:n.*28G>C
ENST00000568575.1:n.283G>C
ENST00000569616.1:c.352G>C
NM_000485.2:c.354G>C	NP_000476.1:p.Glu118Asp
NM_001030018.1:c.354G>C	NP_001025189.1:p.Glu118Asp
NM_000485.3:c.354G>C MANE Select	NP_000476.1:p.Glu118Asp
NM_001030018.2:c.354G>C	NP_001025189.1:p.Glu118Asp