Canonical Allele Identifier: CA497087804
Gene: APRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88876863G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810455G>A , CM000678.2:g.88810455G>A GRCh38
NC_000016.9:g.88876863G>A , CM000678.1:g.88876863G>A GRCh37
NC_000016.8:g.87404364G>A NCBI36
NG_008013.1:g.6480C>T
NG_028266.1:g.11678G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378364.8:c.289C>T MANE Select ENSP00000367615.3:p.Leu97=
ENST00000378364.7:c.289C>T ENSP00000367615.3:p.Leu97=
ENST00000426324.6:c.289C>T ENSP00000397007.2:p.Leu97=
ENST00000562464.1:n.332-307C>T
ENST00000563655.5:c.241-307C>T ENSP00000456012.1:n.241-307C>T
ENST00000567391.5:c.188-307C>T ENSP00000457964.1:n.188-307C>T
ENST00000567713.5:c.289C>T ENSP00000455749.1:p.Leu97=
ENST00000568319.5:c.188-307C>T ENSP00000456905.1:n.188-307C>T
ENST00000569616.1:c.287C>T
NM_000485.2:c.289C>T NP_000476.1:p.Leu97=
NM_001030018.1:c.289C>T NP_001025189.1:p.Leu97=
NM_000485.3:c.289C>T MANE Select NP_000476.1:p.Leu97=
NM_001030018.2:c.289C>T NP_001025189.1:p.Leu97=