Canonical Allele Identifier: CA397086071

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876113T>C (hg19) ; chr16:g.88809705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809705T>C , CM000678.2:g.88809705T>C	GRCh38
NC_000016.9:g.88876113T>C , CM000678.1:g.88876113T>C	GRCh37
NC_000016.8:g.87403614T>C	NCBI36
NG_008013.1:g.7230A>G
NG_028266.1:g.10928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.536A>G MANE Select	ENSP00000367615.3:p.Tyr179Cys
ENST00000378364.7:c.536A>G	ENSP00000367615.3:p.Tyr179Cys
ENST00000426324.6:c.402A>G	ENSP00000397007.2:p.Val134=
ENST00000563655.5:c.455A>G	ENSP00000456012.1:p.Tyr152Cys
ENST00000567057.5:n.201A>G
ENST00000567391.5:c.*210A>G	ENSP00000457964.1:n.*210A>G
ENST00000567713.5:c.322-170A>G	ENSP00000455749.1:n.322-170A>G
ENST00000568319.5:c.*76A>G	ENSP00000456905.1:n.*76A>G
ENST00000568575.1:n.465A>G
ENST00000569616.1:c.601A>G
NM_000485.2:c.536A>G	NP_000476.1:p.Tyr179Cys
NM_001030018.1:c.402A>G	NP_001025189.1:p.Val134=
NM_000485.3:c.536A>G MANE Select	NP_000476.1:p.Tyr179Cys
NM_001030018.2:c.402A>G	NP_001025189.1:p.Val134=