Canonical Allele Identifier: CA044057
Community Standard Title: NM_000038.6(APC):c.6188A>G (p.His2063Arg)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841782A>G , CM000667.2:g.112841782A>G GRCh38
NC_000005.9:g.112177479A>G , CM000667.1:g.112177479A>G GRCh37
NC_000005.8:g.112205378A>G NCBI36
NG_008481.4:g.154262A>G , LRG_130:g.154262A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6188A>G MANE Select NP_000029.2:p.His2063Arg
ENST00000257430.9:c.6188A>G MANE Select ENSP00000257430.4:p.His2063Arg
NM_000038.5:c.6188A>G NP_000029.2:p.His2063Arg
NM_001127510.2:c.6188A>G NP_001120982.1:p.His2063Arg
NM_001127510.3:c.6188A>G NP_001120982.1:p.His2063Arg
NM_001127511.2:c.6134A>G NP_001120983.2:p.His2045Arg
NM_001127511.3:c.6134A>G NP_001120983.2:p.His2045Arg
NM_001354895.1:c.6188A>G NP_001341824.1:p.His2063Arg
NM_001354895.2:c.6188A>G NP_001341824.1:p.His2063Arg
NM_001354896.1:c.6242A>G NP_001341825.1:p.His2081Arg
NM_001354896.2:c.6242A>G NP_001341825.1:p.His2081Arg
NM_001354897.1:c.6218A>G NP_001341826.1:p.His2073Arg
NM_001354897.2:c.6218A>G NP_001341826.1:p.His2073Arg
NM_001354898.1:c.6113A>G NP_001341827.1:p.His2038Arg
NM_001354898.2:c.6113A>G NP_001341827.1:p.His2038Arg
NM_001354899.1:c.6104A>G NP_001341828.1:p.His2035Arg
NM_001354899.2:c.6104A>G NP_001341828.1:p.His2035Arg
NM_001354900.1:c.6065A>G NP_001341829.1:p.His2022Arg
NM_001354900.2:c.6065A>G NP_001341829.1:p.His2022Arg
NM_001354901.1:c.6011A>G NP_001341830.1:p.His2004Arg
NM_001354901.2:c.6011A>G NP_001341830.1:p.His2004Arg
NM_001354902.1:c.5915A>G NP_001341831.1:p.His1972Arg
NM_001354902.2:c.5915A>G NP_001341831.1:p.His1972Arg
NM_001354903.1:c.5885A>G NP_001341832.1:p.His1962Arg
NM_001354903.2:c.5885A>G NP_001341832.1:p.His1962Arg
NM_001354904.1:c.5810A>G NP_001341833.1:p.His1937Arg
NM_001354904.2:c.5810A>G NP_001341833.1:p.His1937Arg
NM_001354905.1:c.5708A>G NP_001341834.1:p.His1903Arg
NM_001354905.2:c.5708A>G NP_001341834.1:p.His1903Arg
NM_001354906.1:c.5339A>G NP_001341835.1:p.His1780Arg
NM_001354906.2:c.5339A>G NP_001341835.1:p.His1780Arg
ENST00000257430.8:c.6188A>G ENSP00000257430.4:p.His2063Arg
ENST00000504915.3:c.6242A>G ENSP00000473355.2:p.His2081Arg
ENST00000505350.2:c.*6194A>G ENSP00000481752.1:n.*6194A>G
ENST00000507379.6:c.6134A>G ENSP00000423224.2:p.His2045Arg
ENST00000508376.6:c.6188A>G ENSP00000427089.2:p.His2063Arg
ENST00000508624.5:c.*5510A>G ENSP00000424265.1:n.*5510A>G
ENST00000509732.6:c.6188A>G ENSP00000426541.2:p.His2063Arg
ENST00000512211.7:c.6188A>G ENSP00000423828.3:p.His2063Arg
ENST00000520401.1:c.230+12810A>G