Canonical Allele Identifier: CA397088674

Gene: APRT

Linked Data

• dbSNP Id: rs1909088511
• gnomAD v4: 16-88810517-G-C
• MyVariant Identifiers: chr16:g.88876925G>C (hg19) ; chr16:g.88810517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810517G>C , CM000678.2:g.88810517G>C	GRCh38
NC_000016.9:g.88876925G>C , CM000678.1:g.88876925G>C	GRCh37
NC_000016.8:g.87404426G>C	NCBI36
NG_008013.1:g.6418C>G
NG_028266.1:g.11740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.227C>G MANE Select	ENSP00000367615.3:p.Ala76Gly
ENST00000378364.7:c.227C>G	ENSP00000367615.3:p.Ala76Gly
ENST00000426324.6:c.227C>G	ENSP00000397007.2:p.Ala76Gly
ENST00000562464.1:n.332-369C>G
ENST00000563655.5:c.241-369C>G	ENSP00000456012.1:n.241-369C>G
ENST00000567391.5:c.188-369C>G	ENSP00000457964.1:n.188-369C>G
ENST00000567713.5:c.227C>G	ENSP00000455749.1:p.Ala76Gly
ENST00000568319.5:c.188-369C>G	ENSP00000456905.1:n.188-369C>G
ENST00000569616.1:c.225C>G
NM_000485.2:c.227C>G	NP_000476.1:p.Ala76Gly
NM_001030018.1:c.227C>G	NP_001025189.1:p.Ala76Gly
NM_000485.3:c.227C>G MANE Select	NP_000476.1:p.Ala76Gly
NM_001030018.2:c.227C>G	NP_001025189.1:p.Ala76Gly