Canonical Allele Identifier: CA8234344

Gene: APRT

Linked Data

• dbSNP Id: rs777907885
• ExAC: 16:88876121 G / A
• gnomAD v2: 16-88876121-G-A
• gnomAD v3: 16-88809713-G-A
• gnomAD v4: 16-88809713-G-A
• MyVariant Identifiers: chr16:g.88876121G>A (hg19) ; chr16:g.88809713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809713G>A , CM000678.2:g.88809713G>A	GRCh38
NC_000016.9:g.88876121G>A , CM000678.1:g.88876121G>A	GRCh37
NC_000016.8:g.87403622G>A	NCBI36
NG_008013.1:g.7222C>T
NG_028266.1:g.10936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.528C>T MANE Select	ENSP00000367615.3:p.Leu176=
ENST00000378364.7:c.528C>T	ENSP00000367615.3:p.Leu176=
ENST00000426324.6:c.401-7C>T	ENSP00000397007.2:n.401-7C>T
ENST00000563655.5:c.447C>T	ENSP00000456012.1:p.Leu149=
ENST00000567057.5:n.200-7C>T
ENST00000567391.5:c.*202C>T	ENSP00000457964.1:n.*202C>T
ENST00000567713.5:c.322-178C>T	ENSP00000455749.1:n.322-178C>T
ENST00000568319.5:c.*75-7C>T	ENSP00000456905.1:n.*75-7C>T
ENST00000568575.1:n.457C>T
ENST00000569616.1:c.593C>T
NM_000485.2:c.528C>T	NP_000476.1:p.Leu176=
NM_001030018.1:c.401-7C>T	NP_001025189.1:n.401-7C>T
NM_000485.3:c.528C>T MANE Select	NP_000476.1:p.Leu176=
NM_001030018.2:c.401-7C>T	NP_001025189.1:n.401-7C>T