Canonical Allele Identifier: CA497086126

Gene: APRT

Linked Data

• dbSNP Id: rs2142951627
• MyVariant Identifiers: chr16:g.88876529G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810121G>A , CM000678.2:g.88810121G>A	GRCh38
NC_000016.9:g.88876529G>A , CM000678.1:g.88876529G>A	GRCh37
NC_000016.8:g.87404030G>A	NCBI36
NG_008013.1:g.6814C>T
NG_028266.1:g.11344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.349C>T MANE Select	ENSP00000367615.3:p.Leu117=
ENST00000378364.7:c.349C>T	ENSP00000367615.3:p.Leu117=
ENST00000426324.6:c.349C>T	ENSP00000397007.2:p.Leu117=
ENST00000562464.1:n.359C>T
ENST00000563655.5:c.268C>T	ENSP00000456012.1:p.Leu90=
ENST00000567057.5:n.148C>T
ENST00000567391.5:c.*23C>T	ENSP00000457964.1:n.*23C>T
ENST00000567713.5:c.321+302C>T	ENSP00000455749.1:n.321+302C>T
ENST00000568319.5:c.*23C>T	ENSP00000456905.1:n.*23C>T
ENST00000568575.1:n.278C>T
ENST00000569616.1:c.347C>T
NM_000485.2:c.349C>T	NP_000476.1:p.Leu117=
NM_001030018.1:c.349C>T	NP_001025189.1:p.Leu117=
NM_000485.3:c.349C>T MANE Select	NP_000476.1:p.Leu117=
NM_001030018.2:c.349C>T	NP_001025189.1:p.Leu117=