Canonical Allele Identifier: CA128035

Gene: APRT

Linked Data

• ClinVar Variation Id: 18296
• ClinVar RCV Id: RCV000019958 ; RCV000033908
• dbSNP Id: rs28999113
• gnomAD v2: 16-88876242-A-G
• gnomAD v4: 16-88809834-A-G
• MyVariant Identifiers: chr16:g.88876242A>G (hg19) ; chr16:g.88809834A>G (hg38)
• PubMed: PMID:1353080 ; PMID:1673292 ; PMID:2227951 ; PMID:2502918 ; PMID:3343350 ; PMID:8882882 ; PMID:22934314

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809834A>G , CM000678.2:g.88809834A>G	GRCh38
NC_000016.9:g.88876242A>G , CM000678.1:g.88876242A>G	GRCh37
NC_000016.8:g.87403743A>G	NCBI36
NG_008013.1:g.7101T>C
NG_028266.1:g.11057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.407T>C MANE Select	ENSP00000367615.3:p.Met136Thr
ENST00000378364.7:c.407T>C	ENSP00000367615.3:p.Met136Thr
ENST00000426324.6:c.401-128T>C	ENSP00000397007.2:n.401-128T>C
ENST00000562464.1:n.417T>C
ENST00000563655.5:c.326T>C	ENSP00000456012.1:p.Met109Thr
ENST00000567057.5:n.200-128T>C
ENST00000567391.5:c.*81T>C	ENSP00000457964.1:n.*81T>C
ENST00000567713.5:c.322-299T>C	ENSP00000455749.1:n.322-299T>C
ENST00000568319.5:c.*75-128T>C	ENSP00000456905.1:n.*75-128T>C
ENST00000568575.1:n.336T>C
ENST00000569616.1:c.472T>C
NM_000485.2:c.407T>C	NP_000476.1:p.Met136Thr
NM_001030018.1:c.401-128T>C	NP_001025189.1:n.401-128T>C
NM_000485.3:c.407T>C MANE Select	NP_000476.1:p.Met136Thr
NM_001030018.2:c.401-128T>C	NP_001025189.1:n.401-128T>C