Canonical Allele Identifier: CA397087908

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876523G>T (hg19) ; chr16:g.88810115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810115G>T , CM000678.2:g.88810115G>T	GRCh38
NC_000016.9:g.88876523G>T , CM000678.1:g.88876523G>T	GRCh37
NC_000016.8:g.87404024G>T	NCBI36
NG_008013.1:g.6820C>A
NG_028266.1:g.11338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.355C>A MANE Select	ENSP00000367615.3:p.Pro119Thr
ENST00000378364.7:c.355C>A	ENSP00000367615.3:p.Pro119Thr
ENST00000426324.6:c.355C>A	ENSP00000397007.2:p.Pro119Thr
ENST00000562464.1:n.365C>A
ENST00000563655.5:c.274C>A	ENSP00000456012.1:p.Pro92Thr
ENST00000567057.5:n.154C>A
ENST00000567391.5:c.*29C>A	ENSP00000457964.1:n.*29C>A
ENST00000567713.5:c.321+308C>A	ENSP00000455749.1:n.321+308C>A
ENST00000568319.5:c.*29C>A	ENSP00000456905.1:n.*29C>A
ENST00000568575.1:n.284C>A
ENST00000569616.1:c.353C>A
NM_000485.2:c.355C>A	NP_000476.1:p.Pro119Thr
NM_001030018.1:c.355C>A	NP_001025189.1:p.Pro119Thr
NM_000485.3:c.355C>A MANE Select	NP_000476.1:p.Pro119Thr
NM_001030018.2:c.355C>A	NP_001025189.1:p.Pro119Thr