Canonical Allele Identifier: CA656816605

Gene: APRT

Linked Data

• dbSNP Id: rs1909068358
• gnomAD v3: 16-88810265-G-A
• gnomAD v4: 16-88810265-G-A
• COSMIC: COSN19668314

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810265G>A , CM000678.2:g.88810265G>A	GRCh38
NC_000016.9:g.88876673G>A , CM000678.1:g.88876673G>A	GRCh37
NC_000016.8:g.87404174G>A	NCBI36
NG_008013.1:g.6670C>T
NG_028266.1:g.11488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-117C>T MANE Select	ENSP00000367615.3:n.322-117C>T
ENST00000378364.7:c.322-117C>T	ENSP00000367615.3:n.322-117C>T
ENST00000426324.6:c.322-117C>T	ENSP00000397007.2:n.322-117C>T
ENST00000562464.1:n.332-117C>T
ENST00000563655.5:c.241-117C>T	ENSP00000456012.1:n.241-117C>T
ENST00000567057.5:n.4C>T
ENST00000567391.5:c.188-117C>T	ENSP00000457964.1:n.188-117C>T
ENST00000567713.5:c.321+158C>T	ENSP00000455749.1:n.321+158C>T
ENST00000568319.5:c.188-117C>T	ENSP00000456905.1:n.188-117C>T
ENST00000568575.1:n.134C>T
ENST00000569616.1:c.320-117C>T
NM_000485.2:c.322-117C>T	NP_000476.1:n.322-117C>T
NM_001030018.1:c.322-117C>T	NP_001025189.1:n.322-117C>T
NM_000485.3:c.322-117C>T MANE Select	NP_000476.1:n.322-117C>T
NM_001030018.2:c.322-117C>T	NP_001025189.1:n.322-117C>T