Canonical Allele Identifier: CA16026215
Community Standard Title: NM_000038.6(APC):c.2228T>C (p.Met743Thr)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837822T>C , CM000667.2:g.112837822T>C GRCh38
NC_000005.9:g.112173519T>C , CM000667.1:g.112173519T>C GRCh37
NC_000005.8:g.112201418T>C NCBI36
NG_008481.4:g.150302T>C , LRG_130:g.150302T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.2228T>C MANE Select NP_000029.2:p.Met743Thr
ENST00000257430.9:c.2228T>C MANE Select ENSP00000257430.4:p.Met743Thr
NM_000038.5:c.2228T>C NP_000029.2:p.Met743Thr
NM_001127510.2:c.2228T>C NP_001120982.1:p.Met743Thr
NM_001127510.3:c.2228T>C NP_001120982.1:p.Met743Thr
NM_001127511.2:c.2174T>C NP_001120983.2:p.Met725Thr
NM_001127511.3:c.2174T>C NP_001120983.2:p.Met725Thr
NM_001354895.1:c.2228T>C NP_001341824.1:p.Met743Thr
NM_001354895.2:c.2228T>C NP_001341824.1:p.Met743Thr
NM_001354896.1:c.2282T>C NP_001341825.1:p.Met761Thr
NM_001354896.2:c.2282T>C NP_001341825.1:p.Met761Thr
NM_001354897.1:c.2258T>C NP_001341826.1:p.Met753Thr
NM_001354897.2:c.2258T>C NP_001341826.1:p.Met753Thr
NM_001354898.1:c.2153T>C NP_001341827.1:p.Met718Thr
NM_001354898.2:c.2153T>C NP_001341827.1:p.Met718Thr
NM_001354899.1:c.2144T>C NP_001341828.1:p.Met715Thr
NM_001354899.2:c.2144T>C NP_001341828.1:p.Met715Thr
NM_001354900.1:c.2105T>C NP_001341829.1:p.Met702Thr
NM_001354900.2:c.2105T>C NP_001341829.1:p.Met702Thr
NM_001354901.1:c.2051T>C NP_001341830.1:p.Met684Thr
NM_001354901.2:c.2051T>C NP_001341830.1:p.Met684Thr
NM_001354902.1:c.1955T>C NP_001341831.1:p.Met652Thr
NM_001354902.2:c.1955T>C NP_001341831.1:p.Met652Thr
NM_001354903.1:c.1925T>C NP_001341832.1:p.Met642Thr
NM_001354903.2:c.1925T>C NP_001341832.1:p.Met642Thr
NM_001354904.1:c.1850T>C NP_001341833.1:p.Met617Thr
NM_001354904.2:c.1850T>C NP_001341833.1:p.Met617Thr
NM_001354905.1:c.1748T>C NP_001341834.1:p.Met583Thr
NM_001354905.2:c.1748T>C NP_001341834.1:p.Met583Thr
NM_001354906.1:c.1379T>C NP_001341835.1:p.Met460Thr
NM_001354906.2:c.1379T>C NP_001341835.1:p.Met460Thr
ENST00000257430.8:c.2228T>C ENSP00000257430.4:p.Met743Thr
ENST00000502371.2:c.581T>C
ENST00000502371.3:c.1893T>C ENSP00000484935.2:n.1893T>C
ENST00000504915.3:c.2282T>C ENSP00000473355.2:p.Met761Thr
ENST00000505350.2:c.*2234T>C ENSP00000481752.1:n.*2234T>C
ENST00000507379.5:c.2174T>C ENSP00000423224.1:p.Met725Thr
ENST00000507379.6:c.2174T>C ENSP00000423224.2:p.Met725Thr
ENST00000508376.6:c.2228T>C ENSP00000427089.2:p.Met743Thr
ENST00000508624.5:c.*1550T>C ENSP00000424265.1:n.*1550T>C
ENST00000509732.6:c.2228T>C ENSP00000426541.2:p.Met743Thr
ENST00000512211.6:c.2228T>C ENSP00000423828.2:p.Met743Thr
ENST00000512211.7:c.2228T>C ENSP00000423828.3:p.Met743Thr
ENST00000520401.1:c.230+8850T>C