Canonical Allele Identifier: CA286425307

Gene: APRT

Linked Data

• dbSNP Id: rs1011477101
• gnomAD v2: 16-88876492-A-C
• gnomAD v4: 16-88810084-A-C
• MyVariant Identifiers: chr16:g.88876492A>C (hg19) ; chr16:g.88810084A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810084A>C , CM000678.2:g.88810084A>C	GRCh38
NC_000016.9:g.88876492A>C , CM000678.1:g.88876492A>C	GRCh37
NC_000016.8:g.87403993A>C	NCBI36
NG_008013.1:g.6851T>G
NG_028266.1:g.11307A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.386T>G MANE Select	ENSP00000367615.3:p.Leu129Arg
ENST00000378364.7:c.386T>G	ENSP00000367615.3:p.Leu129Arg
ENST00000426324.6:c.386T>G	ENSP00000397007.2:p.Leu129Arg
ENST00000562464.1:n.396T>G
ENST00000563655.5:c.305T>G	ENSP00000456012.1:p.Leu102Arg
ENST00000567057.5:n.185T>G
ENST00000567391.5:c.*60T>G	ENSP00000457964.1:n.*60T>G
ENST00000567713.5:c.321+339T>G	ENSP00000455749.1:n.321+339T>G
ENST00000568319.5:c.*60T>G	ENSP00000456905.1:n.*60T>G
ENST00000568575.1:n.315T>G
ENST00000569616.1:c.384T>G
NM_000485.2:c.386T>G	NP_000476.1:p.Leu129Arg
NM_001030018.1:c.386T>G	NP_001025189.1:p.Leu129Arg
NM_000485.3:c.386T>G MANE Select	NP_000476.1:p.Leu129Arg
NM_001030018.2:c.386T>G	NP_001025189.1:p.Leu129Arg