Canonical Allele Identifier: CA397088446

Gene: APRT

Linked Data

• ClinVar Variation Id: 988050
• ClinVar RCV Id: RCV001269442
• dbSNP Id: rs138781159
• gnomAD v2: 16-88876888-C-A
• gnomAD v3: 16-88810480-C-A
• gnomAD v4: 16-88810480-C-A
• MyVariant Identifiers: chr16:g.88876888C>A (hg19) ; chr16:g.88810480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810480C>A , CM000678.2:g.88810480C>A	GRCh38
NC_000016.9:g.88876888C>A , CM000678.1:g.88876888C>A	GRCh37
NC_000016.8:g.87404389C>A	NCBI36
NG_008013.1:g.6455G>T
NG_028266.1:g.11703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.264G>T MANE Select	ENSP00000367615.3:p.Lys88Asn
ENST00000378364.7:c.264G>T	ENSP00000367615.3:p.Lys88Asn
ENST00000426324.6:c.264G>T	ENSP00000397007.2:p.Lys88Asn
ENST00000562464.1:n.332-332G>T
ENST00000563655.5:c.241-332G>T	ENSP00000456012.1:n.241-332G>T
ENST00000567391.5:c.188-332G>T	ENSP00000457964.1:n.188-332G>T
ENST00000567713.5:c.264G>T	ENSP00000455749.1:p.Lys88Asn
ENST00000568319.5:c.188-332G>T	ENSP00000456905.1:n.188-332G>T
ENST00000569616.1:c.262G>T
NM_000485.2:c.264G>T	NP_000476.1:p.Lys88Asn
NM_001030018.1:c.264G>T	NP_001025189.1:p.Lys88Asn
NM_000485.3:c.264G>T MANE Select	NP_000476.1:p.Lys88Asn
NM_001030018.2:c.264G>T	NP_001025189.1:p.Lys88Asn