Canonical Allele Identifier: CA397087630

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876490G>C (hg19) ; chr16:g.88810082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810082G>C , CM000678.2:g.88810082G>C	GRCh38
NC_000016.9:g.88876490G>C , CM000678.1:g.88876490G>C	GRCh37
NC_000016.8:g.87403991G>C	NCBI36
NG_008013.1:g.6853C>G
NG_028266.1:g.11305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.388C>G MANE Select	ENSP00000367615.3:p.Leu130Val
ENST00000378364.7:c.388C>G	ENSP00000367615.3:p.Leu130Val
ENST00000426324.6:c.388C>G	ENSP00000397007.2:p.Leu130Val
ENST00000562464.1:n.398C>G
ENST00000563655.5:c.307C>G	ENSP00000456012.1:p.Leu103Val
ENST00000567057.5:n.187C>G
ENST00000567391.5:c.*62C>G	ENSP00000457964.1:n.*62C>G
ENST00000567713.5:c.321+341C>G	ENSP00000455749.1:n.321+341C>G
ENST00000568319.5:c.*62C>G	ENSP00000456905.1:n.*62C>G
ENST00000568575.1:n.317C>G
ENST00000569616.1:c.386C>G
NM_000485.2:c.388C>G	NP_000476.1:p.Leu130Val
NM_001030018.1:c.388C>G	NP_001025189.1:p.Leu130Val
NM_000485.3:c.388C>G MANE Select	NP_000476.1:p.Leu130Val
NM_001030018.2:c.388C>G	NP_001025189.1:p.Leu130Val