Canonical Allele Identifier: CA497085885

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876503G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810095G>C , CM000678.2:g.88810095G>C	GRCh38
NC_000016.9:g.88876503G>C , CM000678.1:g.88876503G>C	GRCh37
NC_000016.8:g.87404004G>C	NCBI36
NG_008013.1:g.6840C>G
NG_028266.1:g.11318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.375C>G MANE Select	ENSP00000367615.3:p.Val125=
ENST00000378364.7:c.375C>G	ENSP00000367615.3:p.Val125=
ENST00000426324.6:c.375C>G	ENSP00000397007.2:p.Val125=
ENST00000562464.1:n.385C>G
ENST00000563655.5:c.294C>G	ENSP00000456012.1:p.Val98=
ENST00000567057.5:n.174C>G
ENST00000567391.5:c.*49C>G	ENSP00000457964.1:n.*49C>G
ENST00000567713.5:c.321+328C>G	ENSP00000455749.1:n.321+328C>G
ENST00000568319.5:c.*49C>G	ENSP00000456905.1:n.*49C>G
ENST00000568575.1:n.304C>G
ENST00000569616.1:c.373C>G
NM_000485.2:c.375C>G	NP_000476.1:p.Val125=
NM_001030018.1:c.375C>G	NP_001025189.1:p.Val125=
NM_000485.3:c.375C>G MANE Select	NP_000476.1:p.Val125=
NM_001030018.2:c.375C>G	NP_001025189.1:p.Val125=