Canonical Allele Identifier: CA397087887

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876520C>G (hg19) ; chr16:g.88810112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810112C>G , CM000678.2:g.88810112C>G	GRCh38
NC_000016.9:g.88876520C>G , CM000678.1:g.88876520C>G	GRCh37
NC_000016.8:g.87404021C>G	NCBI36
NG_008013.1:g.6823G>C
NG_028266.1:g.11335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.358G>C MANE Select	ENSP00000367615.3:p.Gly120Arg
ENST00000378364.7:c.358G>C	ENSP00000367615.3:p.Gly120Arg
ENST00000426324.6:c.358G>C	ENSP00000397007.2:p.Gly120Arg
ENST00000562464.1:n.368G>C
ENST00000563655.5:c.277G>C	ENSP00000456012.1:p.Gly93Arg
ENST00000567057.5:n.157G>C
ENST00000567391.5:c.*32G>C	ENSP00000457964.1:n.*32G>C
ENST00000567713.5:c.321+311G>C	ENSP00000455749.1:n.321+311G>C
ENST00000568319.5:c.*32G>C	ENSP00000456905.1:n.*32G>C
ENST00000568575.1:n.287G>C
ENST00000569616.1:c.356G>C
NM_000485.2:c.358G>C	NP_000476.1:p.Gly120Arg
NM_001030018.1:c.358G>C	NP_001025189.1:p.Gly120Arg
NM_000485.3:c.358G>C MANE Select	NP_000476.1:p.Gly120Arg
NM_001030018.2:c.358G>C	NP_001025189.1:p.Gly120Arg