Canonical Allele Identifier: CA397088447
Community Standard Title: NM_000485.3(APRT):c.264G>C (p.Lys88Asn)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810480C>G , CM000678.2:g.88810480C>G GRCh38
NC_000016.9:g.88876888C>G , CM000678.1:g.88876888C>G GRCh37
NC_000016.8:g.87404389C>G NCBI36
NG_008013.1:g.6455G>C
NG_028266.1:g.11703C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.264G>C MANE Select NP_000476.1:p.Lys88Asn
ENST00000378364.8:c.264G>C MANE Select ENSP00000367615.3:p.Lys88Asn
NM_000485.2:c.264G>C NP_000476.1:p.Lys88Asn
NM_001030018.1:c.264G>C NP_001025189.1:p.Lys88Asn
NM_001030018.2:c.264G>C NP_001025189.1:p.Lys88Asn
ENST00000378364.7:c.264G>C ENSP00000367615.3:p.Lys88Asn
ENST00000426324.6:c.264G>C ENSP00000397007.2:p.Lys88Asn
ENST00000562464.1:n.332-332G>C
ENST00000563655.5:c.241-332G>C ENSP00000456012.1:n.241-332G>C
ENST00000567391.5:c.188-332G>C ENSP00000457964.1:n.188-332G>C
ENST00000567713.5:c.264G>C ENSP00000455749.1:p.Lys88Asn
ENST00000568319.5:c.188-332G>C ENSP00000456905.1:n.188-332G>C
ENST00000569616.1:c.262G>C