Canonical Allele Identifier: CA397088023

Gene: APRT

Linked Data

• dbSNP Id: rs767177754
• MyVariant Identifiers: chr16:g.88876544T>C (hg19) ; chr16:g.88810136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810136T>C , CM000678.2:g.88810136T>C	GRCh38
NC_000016.9:g.88876544T>C , CM000678.1:g.88876544T>C	GRCh37
NC_000016.8:g.87404045T>C	NCBI36
NG_008013.1:g.6799A>G
NG_028266.1:g.11359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.334A>G MANE Select	ENSP00000367615.3:p.Ile112Val
ENST00000378364.7:c.334A>G	ENSP00000367615.3:p.Ile112Val
ENST00000426324.6:c.334A>G	ENSP00000397007.2:p.Ile112Val
ENST00000562464.1:n.344A>G
ENST00000563655.5:c.253A>G	ENSP00000456012.1:p.Ile85Val
ENST00000567057.5:n.133A>G
ENST00000567391.5:c.*8A>G	ENSP00000457964.1:n.*8A>G
ENST00000567713.5:c.321+287A>G	ENSP00000455749.1:n.321+287A>G
ENST00000568319.5:c.*8A>G	ENSP00000456905.1:n.*8A>G
ENST00000568575.1:n.263A>G
ENST00000569616.1:c.332A>G
NM_000485.2:c.334A>G	NP_000476.1:p.Ile112Val
NM_001030018.1:c.334A>G	NP_001025189.1:p.Ile112Val
NM_000485.3:c.334A>G MANE Select	NP_000476.1:p.Ile112Val
NM_001030018.2:c.334A>G	NP_001025189.1:p.Ile112Val