Canonical Allele Identifier: CA397088282

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876858C>G (hg19) ; chr16:g.88810450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810450C>G , CM000678.2:g.88810450C>G	GRCh38
NC_000016.9:g.88876858C>G , CM000678.1:g.88876858C>G	GRCh37
NC_000016.8:g.87404359C>G	NCBI36
NG_008013.1:g.6485G>C
NG_028266.1:g.11673C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.294G>C MANE Select	ENSP00000367615.3:p.Trp98Cys
ENST00000378364.7:c.294G>C	ENSP00000367615.3:p.Trp98Cys
ENST00000426324.6:c.294G>C	ENSP00000397007.2:p.Trp98Cys
ENST00000562464.1:n.332-302G>C
ENST00000563655.5:c.241-302G>C	ENSP00000456012.1:n.241-302G>C
ENST00000567391.5:c.188-302G>C	ENSP00000457964.1:n.188-302G>C
ENST00000567713.5:c.294G>C	ENSP00000455749.1:p.Trp98Cys
ENST00000568319.5:c.188-302G>C	ENSP00000456905.1:n.188-302G>C
ENST00000569616.1:c.292G>C
NM_000485.2:c.294G>C	NP_000476.1:p.Trp98Cys
NM_001030018.1:c.294G>C	NP_001025189.1:p.Trp98Cys
NM_000485.3:c.294G>C MANE Select	NP_000476.1:p.Trp98Cys
NM_001030018.2:c.294G>C	NP_001025189.1:p.Trp98Cys