Canonical Allele Identifier: CA16033522
Community Standard Title: NM_000038.6(APC):c.5570C>G (p.Ser1857Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841164C>G , CM000667.2:g.112841164C>G GRCh38
NC_000005.9:g.112176861C>G , CM000667.1:g.112176861C>G GRCh37
NC_000005.8:g.112204760C>G NCBI36
NG_008481.4:g.153644C>G , LRG_130:g.153644C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.5570C>G MANE Select NP_000029.2:p.Ser1857Ter
ENST00000257430.9:c.5570C>G MANE Select ENSP00000257430.4:p.Ser1857Ter
NM_000038.5:c.5570C>G NP_000029.2:p.Ser1857Ter
NM_001127510.2:c.5570C>G NP_001120982.1:p.Ser1857Ter
NM_001127510.3:c.5570C>G NP_001120982.1:p.Ser1857Ter
NM_001127511.2:c.5516C>G NP_001120983.2:p.Ser1839Ter
NM_001127511.3:c.5516C>G NP_001120983.2:p.Ser1839Ter
NM_001354895.1:c.5570C>G NP_001341824.1:p.Ser1857Ter
NM_001354895.2:c.5570C>G NP_001341824.1:p.Ser1857Ter
NM_001354896.1:c.5624C>G NP_001341825.1:p.Ser1875Ter
NM_001354896.2:c.5624C>G NP_001341825.1:p.Ser1875Ter
NM_001354897.1:c.5600C>G NP_001341826.1:p.Ser1867Ter
NM_001354897.2:c.5600C>G NP_001341826.1:p.Ser1867Ter
NM_001354898.1:c.5495C>G NP_001341827.1:p.Ser1832Ter
NM_001354898.2:c.5495C>G NP_001341827.1:p.Ser1832Ter
NM_001354899.1:c.5486C>G NP_001341828.1:p.Ser1829Ter
NM_001354899.2:c.5486C>G NP_001341828.1:p.Ser1829Ter
NM_001354900.1:c.5447C>G NP_001341829.1:p.Ser1816Ter
NM_001354900.2:c.5447C>G NP_001341829.1:p.Ser1816Ter
NM_001354901.1:c.5393C>G NP_001341830.1:p.Ser1798Ter
NM_001354901.2:c.5393C>G NP_001341830.1:p.Ser1798Ter
NM_001354902.1:c.5297C>G NP_001341831.1:p.Ser1766Ter
NM_001354902.2:c.5297C>G NP_001341831.1:p.Ser1766Ter
NM_001354903.1:c.5267C>G NP_001341832.1:p.Ser1756Ter
NM_001354903.2:c.5267C>G NP_001341832.1:p.Ser1756Ter
NM_001354904.1:c.5192C>G NP_001341833.1:p.Ser1731Ter
NM_001354904.2:c.5192C>G NP_001341833.1:p.Ser1731Ter
NM_001354905.1:c.5090C>G NP_001341834.1:p.Ser1697Ter
NM_001354905.2:c.5090C>G NP_001341834.1:p.Ser1697Ter
NM_001354906.1:c.4721C>G NP_001341835.1:p.Ser1574Ter
NM_001354906.2:c.4721C>G NP_001341835.1:p.Ser1574Ter
ENST00000257430.8:c.5570C>G ENSP00000257430.4:p.Ser1857Ter
ENST00000504915.3:c.5624C>G ENSP00000473355.2:p.Ser1875Ter
ENST00000505350.2:c.*5576C>G ENSP00000481752.1:n.*5576C>G
ENST00000507379.6:c.5516C>G ENSP00000423224.2:p.Ser1839Ter
ENST00000508376.6:c.5570C>G ENSP00000427089.2:p.Ser1857Ter
ENST00000508624.5:c.*4892C>G ENSP00000424265.1:n.*4892C>G
ENST00000509732.6:c.5570C>G ENSP00000426541.2:p.Ser1857Ter
ENST00000512211.7:c.5570C>G ENSP00000423828.3:p.Ser1857Ter
ENST00000520401.1:c.230+12192C>G