Canonical Allele Identifier: CA397087559

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876481C>A (hg19) ; chr16:g.88810073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810073C>A , CM000678.2:g.88810073C>A	GRCh38
NC_000016.9:g.88876481C>A , CM000678.1:g.88876481C>A	GRCh37
NC_000016.8:g.87403982C>A	NCBI36
NG_008013.1:g.6862G>T
NG_028266.1:g.11296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.397G>T MANE Select	ENSP00000367615.3:p.Gly133Cys
ENST00000378364.7:c.397G>T	ENSP00000367615.3:p.Gly133Cys
ENST00000426324.6:c.397G>T	ENSP00000397007.2:p.Gly133Cys
ENST00000562464.1:n.407G>T
ENST00000563655.5:c.316G>T	ENSP00000456012.1:p.Gly106Cys
ENST00000567057.5:n.196G>T
ENST00000567391.5:c.*71G>T	ENSP00000457964.1:n.*71G>T
ENST00000567713.5:c.321+350G>T	ENSP00000455749.1:n.321+350G>T
ENST00000568319.5:c.*71G>T	ENSP00000456905.1:n.*71G>T
ENST00000568575.1:n.326G>T
ENST00000569616.1:c.395G>T
NM_000485.2:c.397G>T	NP_000476.1:p.Gly133Cys
NM_001030018.1:c.397G>T	NP_001025189.1:p.Gly133Cys
NM_000485.3:c.397G>T MANE Select	NP_000476.1:p.Gly133Cys
NM_001030018.2:c.397G>T	NP_001025189.1:p.Gly133Cys