Canonical Allele Identifier: CA497087597

Gene: APRT

Linked Data

• dbSNP Id: rs1188342302
• gnomAD v2: 16-88876840-C-T
• gnomAD v4: 16-88810432-C-T
• MyVariant Identifiers: chr16:g.88876840C>T (hg19) ; chr16:g.88810432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810432C>T , CM000678.2:g.88810432C>T	GRCh38
NC_000016.9:g.88876840C>T , CM000678.1:g.88876840C>T	GRCh37
NC_000016.8:g.87404341C>T	NCBI36
NG_008013.1:g.6503G>A
NG_028266.1:g.11655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.312G>A MANE Select	ENSP00000367615.3:p.Glu104=
ENST00000378364.7:c.312G>A	ENSP00000367615.3:p.Glu104=
ENST00000426324.6:c.312G>A	ENSP00000397007.2:p.Glu104=
ENST00000562464.1:n.332-284G>A
ENST00000563655.5:c.241-284G>A	ENSP00000456012.1:n.241-284G>A
ENST00000567391.5:c.188-284G>A	ENSP00000457964.1:n.188-284G>A
ENST00000567713.5:c.312G>A	ENSP00000455749.1:p.Glu104=
ENST00000568319.5:c.188-284G>A	ENSP00000456905.1:n.188-284G>A
ENST00000569616.1:c.310G>A
NM_000485.2:c.312G>A	NP_000476.1:p.Glu104=
NM_001030018.1:c.312G>A	NP_001025189.1:p.Glu104=
NM_000485.3:c.312G>A MANE Select	NP_000476.1:p.Glu104=
NM_001030018.2:c.312G>A	NP_001025189.1:p.Glu104=