Canonical Allele Identifier: CA16035383
Community Standard Title: NM_000038.6(APC):c.6419C>G (p.Ser2140Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842013C>G , CM000667.2:g.112842013C>G GRCh38
NC_000005.9:g.112177710C>G , CM000667.1:g.112177710C>G GRCh37
NC_000005.8:g.112205609C>G NCBI36
NG_008481.4:g.154493C>G , LRG_130:g.154493C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6419C>G MANE Select NP_000029.2:p.Ser2140Ter
ENST00000257430.9:c.6419C>G MANE Select ENSP00000257430.4:p.Ser2140Ter
NM_000038.5:c.6419C>G NP_000029.2:p.Ser2140Ter
NM_001127510.2:c.6419C>G NP_001120982.1:p.Ser2140Ter
NM_001127510.3:c.6419C>G NP_001120982.1:p.Ser2140Ter
NM_001127511.2:c.6365C>G NP_001120983.2:p.Ser2122Ter
NM_001127511.3:c.6365C>G NP_001120983.2:p.Ser2122Ter
NM_001354895.1:c.6419C>G NP_001341824.1:p.Ser2140Ter
NM_001354895.2:c.6419C>G NP_001341824.1:p.Ser2140Ter
NM_001354896.1:c.6473C>G NP_001341825.1:p.Ser2158Ter
NM_001354896.2:c.6473C>G NP_001341825.1:p.Ser2158Ter
NM_001354897.1:c.6449C>G NP_001341826.1:p.Ser2150Ter
NM_001354897.2:c.6449C>G NP_001341826.1:p.Ser2150Ter
NM_001354898.1:c.6344C>G NP_001341827.1:p.Ser2115Ter
NM_001354898.2:c.6344C>G NP_001341827.1:p.Ser2115Ter
NM_001354899.1:c.6335C>G NP_001341828.1:p.Ser2112Ter
NM_001354899.2:c.6335C>G NP_001341828.1:p.Ser2112Ter
NM_001354900.1:c.6296C>G NP_001341829.1:p.Ser2099Ter
NM_001354900.2:c.6296C>G NP_001341829.1:p.Ser2099Ter
NM_001354901.1:c.6242C>G NP_001341830.1:p.Ser2081Ter
NM_001354901.2:c.6242C>G NP_001341830.1:p.Ser2081Ter
NM_001354902.1:c.6146C>G NP_001341831.1:p.Ser2049Ter
NM_001354902.2:c.6146C>G NP_001341831.1:p.Ser2049Ter
NM_001354903.1:c.6116C>G NP_001341832.1:p.Ser2039Ter
NM_001354903.2:c.6116C>G NP_001341832.1:p.Ser2039Ter
NM_001354904.1:c.6041C>G NP_001341833.1:p.Ser2014Ter
NM_001354904.2:c.6041C>G NP_001341833.1:p.Ser2014Ter
NM_001354905.1:c.5939C>G NP_001341834.1:p.Ser1980Ter
NM_001354905.2:c.5939C>G NP_001341834.1:p.Ser1980Ter
NM_001354906.1:c.5570C>G NP_001341835.1:p.Ser1857Ter
NM_001354906.2:c.5570C>G NP_001341835.1:p.Ser1857Ter
ENST00000257430.8:c.6419C>G ENSP00000257430.4:p.Ser2140Ter
ENST00000504915.3:c.6473C>G ENSP00000473355.2:p.Ser2158Ter
ENST00000505350.2:c.*6425C>G ENSP00000481752.1:n.*6425C>G
ENST00000507379.6:c.6365C>G ENSP00000423224.2:p.Ser2122Ter
ENST00000508376.6:c.6419C>G ENSP00000427089.2:p.Ser2140Ter
ENST00000508624.5:c.*5741C>G ENSP00000424265.1:n.*5741C>G
ENST00000509732.6:c.6419C>G ENSP00000426541.2:p.Ser2140Ter
ENST00000512211.7:c.6419C>G ENSP00000423828.3:p.Ser2140Ter
ENST00000520401.1:c.230+13041C>G