Canonical Allele Identifier: CA397087573

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876483G>C (hg19) ; chr16:g.88810075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810075G>C , CM000678.2:g.88810075G>C	GRCh38
NC_000016.9:g.88876483G>C , CM000678.1:g.88876483G>C	GRCh37
NC_000016.8:g.87403984G>C	NCBI36
NG_008013.1:g.6860C>G
NG_028266.1:g.11298G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.395C>G MANE Select	ENSP00000367615.3:p.Thr132Ser
ENST00000378364.7:c.395C>G	ENSP00000367615.3:p.Thr132Ser
ENST00000426324.6:c.395C>G	ENSP00000397007.2:p.Thr132Ser
ENST00000562464.1:n.405C>G
ENST00000563655.5:c.314C>G	ENSP00000456012.1:p.Thr105Ser
ENST00000567057.5:n.194C>G
ENST00000567391.5:c.*69C>G	ENSP00000457964.1:n.*69C>G
ENST00000567713.5:c.321+348C>G	ENSP00000455749.1:n.321+348C>G
ENST00000568319.5:c.*69C>G	ENSP00000456905.1:n.*69C>G
ENST00000568575.1:n.324C>G
ENST00000569616.1:c.393C>G
NM_000485.2:c.395C>G	NP_000476.1:p.Thr132Ser
NM_001030018.1:c.395C>G	NP_001025189.1:p.Thr132Ser
NM_000485.3:c.395C>G MANE Select	NP_000476.1:p.Thr132Ser
NM_001030018.2:c.395C>G	NP_001025189.1:p.Thr132Ser