Canonical Allele Identifier: CA397086119

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876119A>T (hg19) ; chr16:g.88809711A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809711A>T , CM000678.2:g.88809711A>T	GRCh38
NC_000016.9:g.88876119A>T , CM000678.1:g.88876119A>T	GRCh37
NC_000016.8:g.87403620A>T	NCBI36
NG_008013.1:g.7224T>A
NG_028266.1:g.10934A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.530T>A MANE Select	ENSP00000367615.3:p.Leu177Gln
ENST00000378364.7:c.530T>A	ENSP00000367615.3:p.Leu177Gln
ENST00000426324.6:c.401-5T>A	ENSP00000397007.2:n.401-5T>A
ENST00000563655.5:c.449T>A	ENSP00000456012.1:p.Leu150Gln
ENST00000567057.5:n.200-5T>A
ENST00000567391.5:c.*204T>A	ENSP00000457964.1:n.*204T>A
ENST00000567713.5:c.322-176T>A	ENSP00000455749.1:n.322-176T>A
ENST00000568319.5:c.*75-5T>A	ENSP00000456905.1:n.*75-5T>A
ENST00000568575.1:n.459T>A
ENST00000569616.1:c.595T>A
NM_000485.2:c.530T>A	NP_000476.1:p.Leu177Gln
NM_001030018.1:c.401-5T>A	NP_001025189.1:n.401-5T>A
NM_000485.3:c.530T>A MANE Select	NP_000476.1:p.Leu177Gln
NM_001030018.2:c.401-5T>A	NP_001025189.1:n.401-5T>A