Canonical Allele Identifier: CA397087863

Gene: APRT

Linked Data

• gnomAD v4: 16-88810109-G-A
• MyVariant Identifiers: chr16:g.88876517G>A (hg19) ; chr16:g.88810109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810109G>A , CM000678.2:g.88810109G>A	GRCh38
NC_000016.9:g.88876517G>A , CM000678.1:g.88876517G>A	GRCh37
NC_000016.8:g.87404018G>A	NCBI36
NG_008013.1:g.6826C>T
NG_028266.1:g.11332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.361C>T MANE Select	ENSP00000367615.3:p.Gln121Ter
ENST00000378364.7:c.361C>T	ENSP00000367615.3:p.Gln121Ter
ENST00000426324.6:c.361C>T	ENSP00000397007.2:p.Gln121Ter
ENST00000562464.1:n.371C>T
ENST00000563655.5:c.280C>T	ENSP00000456012.1:p.Gln94Ter
ENST00000567057.5:n.160C>T
ENST00000567391.5:c.*35C>T	ENSP00000457964.1:n.*35C>T
ENST00000567713.5:c.321+314C>T	ENSP00000455749.1:n.321+314C>T
ENST00000568319.5:c.*35C>T	ENSP00000456905.1:n.*35C>T
ENST00000568575.1:n.290C>T
ENST00000569616.1:c.359C>T
NM_000485.2:c.361C>T	NP_000476.1:p.Gln121Ter
NM_001030018.1:c.361C>T	NP_001025189.1:p.Gln121Ter
NM_000485.3:c.361C>T MANE Select	NP_000476.1:p.Gln121Ter
NM_001030018.2:c.361C>T	NP_001025189.1:p.Gln121Ter