Canonical Allele Identifier: CA286422673

Gene: APRT

Linked Data

• dbSNP Id: rs944384557
• gnomAD v3: 16-88809622-C-T
• gnomAD v4: 16-88809622-C-T
• MyVariant Identifiers: chr16:g.88876030C>T (hg19) ; chr16:g.88809622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809622C>T , CM000678.2:g.88809622C>T	GRCh38
NC_000016.9:g.88876030C>T , CM000678.1:g.88876030C>T	GRCh37
NC_000016.8:g.87403531C>T	NCBI36
NG_008013.1:g.7313G>A
NG_028266.1:g.10845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*76G>A MANE Select	ENSP00000367615.3:n.*76G>A
ENST00000378364.7:c.*76G>A	ENSP00000367615.3:n.*76G>A
ENST00000426324.6:c.*80G>A	ENSP00000397007.2:n.*80G>A
ENST00000563655.5:c.*76G>A	ENSP00000456012.1:n.*76G>A
ENST00000567057.5:n.284G>A
ENST00000567391.5:c.*293G>A	ENSP00000457964.1:n.*293G>A
ENST00000567713.5:c.322-87G>A	ENSP00000455749.1:n.322-87G>A
ENST00000568319.5:c.*159G>A	ENSP00000456905.1:n.*159G>A
ENST00000569616.1:c.684G>A
NM_000485.2:c.*76G>A	NP_000476.1:n.*76G>A
NM_001030018.1:c.*80G>A	NP_001025189.1:n.*80G>A
NM_000485.3:c.*76G>A MANE Select	NP_000476.1:n.*76G>A
NM_001030018.2:c.*80G>A	NP_001025189.1:n.*80G>A