Canonical Allele Identifier: CA497085853

Gene: APRT

Linked Data

• dbSNP Id: rs1358809944
• gnomAD v3: 16-88810092-C-T
• gnomAD v4: 16-88810092-C-T
• MyVariant Identifiers: chr16:g.88876500C>T (hg19) ; chr16:g.88810092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810092C>T , CM000678.2:g.88810092C>T	GRCh38
NC_000016.9:g.88876500C>T , CM000678.1:g.88876500C>T	GRCh37
NC_000016.8:g.87404001C>T	NCBI36
NG_008013.1:g.6843G>A
NG_028266.1:g.11315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.378G>A MANE Select	ENSP00000367615.3:p.Val126=
ENST00000378364.7:c.378G>A	ENSP00000367615.3:p.Val126=
ENST00000426324.6:c.378G>A	ENSP00000397007.2:p.Val126=
ENST00000562464.1:n.388G>A
ENST00000563655.5:c.297G>A	ENSP00000456012.1:p.Val99=
ENST00000567057.5:n.177G>A
ENST00000567391.5:c.*52G>A	ENSP00000457964.1:n.*52G>A
ENST00000567713.5:c.321+331G>A	ENSP00000455749.1:n.321+331G>A
ENST00000568319.5:c.*52G>A	ENSP00000456905.1:n.*52G>A
ENST00000568575.1:n.307G>A
ENST00000569616.1:c.376G>A
NM_000485.2:c.378G>A	NP_000476.1:p.Val126=
NM_001030018.1:c.378G>A	NP_001025189.1:p.Val126=
NM_000485.3:c.378G>A MANE Select	NP_000476.1:p.Val126=
NM_001030018.2:c.378G>A	NP_001025189.1:p.Val126=