Canonical Allele Identifier: CA397087754

Gene: APRT

Linked Data

• dbSNP Id: rs75205792
• gnomAD v4: 16-88810094-C-G
• MyVariant Identifiers: chr16:g.88876502C>G (hg19) ; chr16:g.88810094C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810094C>G , CM000678.2:g.88810094C>G	GRCh38
NC_000016.9:g.88876502C>G , CM000678.1:g.88876502C>G	GRCh37
NC_000016.8:g.87404003C>G	NCBI36
NG_008013.1:g.6841G>C
NG_028266.1:g.11317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.376G>C MANE Select	ENSP00000367615.3:p.Val126Leu
ENST00000378364.7:c.376G>C	ENSP00000367615.3:p.Val126Leu
ENST00000426324.6:c.376G>C	ENSP00000397007.2:p.Val126Leu
ENST00000562464.1:n.386G>C
ENST00000563655.5:c.295G>C	ENSP00000456012.1:p.Val99Leu
ENST00000567057.5:n.175G>C
ENST00000567391.5:c.*50G>C	ENSP00000457964.1:n.*50G>C
ENST00000567713.5:c.321+329G>C	ENSP00000455749.1:n.321+329G>C
ENST00000568319.5:c.*50G>C	ENSP00000456905.1:n.*50G>C
ENST00000568575.1:n.305G>C
ENST00000569616.1:c.374G>C
NM_000485.2:c.376G>C	NP_000476.1:p.Val126Leu
NM_001030018.1:c.376G>C	NP_001025189.1:p.Val126Leu
NM_000485.3:c.376G>C MANE Select	NP_000476.1:p.Val126Leu
NM_001030018.2:c.376G>C	NP_001025189.1:p.Val126Leu