Canonical Allele Identifier: CA053936
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 469789
dbSNP Id: rs755954869

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707850C>T , CM000667.2:g.112707850C>T GRCh38
NC_000005.9:g.112043547C>T , CM000667.1:g.112043547C>T GRCh37
NC_000005.8:g.112071446C>T NCBI36
NG_008481.4:g.20330C>T , LRG_130:g.20330C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.133C>T ENSP00000481752.1:p.Arg45Cys
ENST00000507379.6:c.133C>T ENSP00000423224.2:p.Arg45Cys
ENST00000509732.6:c.-19+201C>T ENSP00000426541.2:n.-19+201C>T
ENST00000505350.1:c.133C>T ENSP00000481752.1:p.Arg45Cys
ENST00000507379.5:c.133C>T ENSP00000423224.1:p.Arg45Cys
ENST00000509732.5:c.-19+201C>T ENSP00000426541.1:n.-19+201C>T
NM_001127511.2:c.133C>T NP_001120983.2:p.Arg45Cys
NM_001354895.1:c.-51C>T NP_001341824.1:n.-51C>T
NM_001354897.1:c.133C>T NP_001341826.1:p.Arg45Cys
NM_001354902.1:c.133C>T NP_001341831.1:p.Arg45Cys
NM_001127511.3:c.133C>T NP_001120983.2:p.Arg45Cys
NM_001354895.2:c.-51C>T NP_001341824.1:n.-51C>T
NM_001354897.2:c.133C>T NP_001341826.1:p.Arg45Cys
NM_001354902.2:c.133C>T NP_001341831.1:p.Arg45Cys