Canonical Allele Identifier: CA16036137
Community Standard Title: NM_000038.6(APC):c.6779G>C (p.Ser2260Thr)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842373G>C , CM000667.2:g.112842373G>C GRCh38
NC_000005.9:g.112178070G>C , CM000667.1:g.112178070G>C GRCh37
NC_000005.8:g.112205969G>C NCBI36
NG_008481.4:g.154853G>C , LRG_130:g.154853G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6779G>C MANE Select NP_000029.2:p.Ser2260Thr
ENST00000257430.9:c.6779G>C MANE Select ENSP00000257430.4:p.Ser2260Thr
NM_000038.5:c.6779G>C NP_000029.2:p.Ser2260Thr
NM_001127510.2:c.6779G>C NP_001120982.1:p.Ser2260Thr
NM_001127510.3:c.6779G>C NP_001120982.1:p.Ser2260Thr
NM_001127511.2:c.6725G>C NP_001120983.2:p.Ser2242Thr
NM_001127511.3:c.6725G>C NP_001120983.2:p.Ser2242Thr
NM_001354895.1:c.6779G>C NP_001341824.1:p.Ser2260Thr
NM_001354895.2:c.6779G>C NP_001341824.1:p.Ser2260Thr
NM_001354896.1:c.6833G>C NP_001341825.1:p.Ser2278Thr
NM_001354896.2:c.6833G>C NP_001341825.1:p.Ser2278Thr
NM_001354897.1:c.6809G>C NP_001341826.1:p.Ser2270Thr
NM_001354897.2:c.6809G>C NP_001341826.1:p.Ser2270Thr
NM_001354898.1:c.6704G>C NP_001341827.1:p.Ser2235Thr
NM_001354898.2:c.6704G>C NP_001341827.1:p.Ser2235Thr
NM_001354899.1:c.6695G>C NP_001341828.1:p.Ser2232Thr
NM_001354899.2:c.6695G>C NP_001341828.1:p.Ser2232Thr
NM_001354900.1:c.6656G>C NP_001341829.1:p.Ser2219Thr
NM_001354900.2:c.6656G>C NP_001341829.1:p.Ser2219Thr
NM_001354901.1:c.6602G>C NP_001341830.1:p.Ser2201Thr
NM_001354901.2:c.6602G>C NP_001341830.1:p.Ser2201Thr
NM_001354902.1:c.6506G>C NP_001341831.1:p.Ser2169Thr
NM_001354902.2:c.6506G>C NP_001341831.1:p.Ser2169Thr
NM_001354903.1:c.6476G>C NP_001341832.1:p.Ser2159Thr
NM_001354903.2:c.6476G>C NP_001341832.1:p.Ser2159Thr
NM_001354904.1:c.6401G>C NP_001341833.1:p.Ser2134Thr
NM_001354904.2:c.6401G>C NP_001341833.1:p.Ser2134Thr
NM_001354905.1:c.6299G>C NP_001341834.1:p.Ser2100Thr
NM_001354905.2:c.6299G>C NP_001341834.1:p.Ser2100Thr
NM_001354906.1:c.5930G>C NP_001341835.1:p.Ser1977Thr
NM_001354906.2:c.5930G>C NP_001341835.1:p.Ser1977Thr
ENST00000257430.8:c.6779G>C ENSP00000257430.4:p.Ser2260Thr
ENST00000504915.3:c.6833G>C ENSP00000473355.2:p.Ser2278Thr
ENST00000505350.2:c.*6785G>C ENSP00000481752.1:n.*6785G>C
ENST00000507379.6:c.6725G>C ENSP00000423224.2:p.Ser2242Thr
ENST00000508376.6:c.6779G>C ENSP00000427089.2:p.Ser2260Thr
ENST00000508624.5:c.*6101G>C ENSP00000424265.1:n.*6101G>C
ENST00000509732.6:c.6779G>C ENSP00000426541.2:p.Ser2260Thr
ENST00000512211.7:c.6779G>C ENSP00000423828.3:p.Ser2260Thr
ENST00000520401.1:c.230+13401G>C