Canonical Allele Identifier: CA397087998

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876539C>A (hg19) ; chr16:g.88810131C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810131C>A , CM000678.2:g.88810131C>A	GRCh38
NC_000016.9:g.88876539C>A , CM000678.1:g.88876539C>A	GRCh37
NC_000016.8:g.87404040C>A	NCBI36
NG_008013.1:g.6804G>T
NG_028266.1:g.11354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.339G>T MANE Select	ENSP00000367615.3:p.Gln113His
ENST00000378364.7:c.339G>T	ENSP00000367615.3:p.Gln113His
ENST00000426324.6:c.339G>T	ENSP00000397007.2:p.Gln113His
ENST00000562464.1:n.349G>T
ENST00000563655.5:c.258G>T	ENSP00000456012.1:p.Gln86His
ENST00000567057.5:n.138G>T
ENST00000567391.5:c.*13G>T	ENSP00000457964.1:n.*13G>T
ENST00000567713.5:c.321+292G>T	ENSP00000455749.1:n.321+292G>T
ENST00000568319.5:c.*13G>T	ENSP00000456905.1:n.*13G>T
ENST00000568575.1:n.268G>T
ENST00000569616.1:c.337G>T
NM_000485.2:c.339G>T	NP_000476.1:p.Gln113His
NM_001030018.1:c.339G>T	NP_001025189.1:p.Gln113His
NM_000485.3:c.339G>T MANE Select	NP_000476.1:p.Gln113His
NM_001030018.2:c.339G>T	NP_001025189.1:p.Gln113His