Canonical Allele Identifier: CA16025908
Gene: APC HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837690G>C , CM000667.2:g.112837690G>C GRCh38
NC_000005.9:g.112173387G>C , CM000667.1:g.112173387G>C GRCh37
NC_000005.8:g.112201286G>C NCBI36
NG_008481.4:g.150170G>C , LRG_130:g.150170G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1761G>C ENSP00000484935.2:n.1761G>C
ENST00000504915.3:c.2150G>C ENSP00000473355.2:p.Trp717Ser
ENST00000505350.2:c.*2102G>C ENSP00000481752.1:n.*2102G>C
ENST00000507379.6:c.2042G>C ENSP00000423224.2:p.Trp681Ser
ENST00000509732.6:c.2096G>C ENSP00000426541.2:p.Trp699Ser
ENST00000512211.7:c.2096G>C ENSP00000423828.3:p.Trp699Ser
ENST00000257430.9:c.2096G>C MANE Select ENSP00000257430.4:p.Trp699Ser
ENST00000257430.8:c.2096G>C ENSP00000257430.4:p.Trp699Ser
ENST00000502371.2:c.449G>C
ENST00000504915.2:c.785G>C ENSP00000473355.1:p.Trp262Ser
ENST00000507379.5:c.2042G>C ENSP00000423224.1:p.Trp681Ser
ENST00000508376.6:c.2096G>C ENSP00000427089.2:p.Trp699Ser
ENST00000508624.5:c.*1418G>C ENSP00000424265.1:n.*1418G>C
ENST00000512211.6:c.2096G>C ENSP00000423828.2:p.Trp699Ser
ENST00000520401.1:c.230+8718G>C
NM_000038.5:c.2096G>C NP_000029.2:p.Trp699Ser
NM_001127510.2:c.2096G>C NP_001120982.1:p.Trp699Ser
NM_001127511.2:c.2042G>C NP_001120983.2:p.Trp681Ser
NM_001354895.1:c.2096G>C NP_001341824.1:p.Trp699Ser
NM_001354896.1:c.2150G>C NP_001341825.1:p.Trp717Ser
NM_001354897.1:c.2126G>C NP_001341826.1:p.Trp709Ser
NM_001354898.1:c.2021G>C NP_001341827.1:p.Trp674Ser
NM_001354899.1:c.2012G>C NP_001341828.1:p.Trp671Ser
NM_001354900.1:c.1973G>C NP_001341829.1:p.Trp658Ser
NM_001354901.1:c.1919G>C NP_001341830.1:p.Trp640Ser
NM_001354902.1:c.1823G>C NP_001341831.1:p.Trp608Ser
NM_001354903.1:c.1793G>C NP_001341832.1:p.Trp598Ser
NM_001354904.1:c.1718G>C NP_001341833.1:p.Trp573Ser
NM_001354905.1:c.1616G>C NP_001341834.1:p.Trp539Ser
NM_001354906.1:c.1247G>C NP_001341835.1:p.Trp416Ser
NM_000038.6:c.2096G>C MANE Select NP_000029.2:p.Trp699Ser
NM_001127510.3:c.2096G>C NP_001120982.1:p.Trp699Ser
NM_001127511.3:c.2042G>C NP_001120983.2:p.Trp681Ser
NM_001354895.2:c.2096G>C NP_001341824.1:p.Trp699Ser
NM_001354896.2:c.2150G>C NP_001341825.1:p.Trp717Ser
NM_001354897.2:c.2126G>C NP_001341826.1:p.Trp709Ser
NM_001354898.2:c.2021G>C NP_001341827.1:p.Trp674Ser
NM_001354899.2:c.2012G>C NP_001341828.1:p.Trp671Ser
NM_001354900.2:c.1973G>C NP_001341829.1:p.Trp658Ser
NM_001354901.2:c.1919G>C NP_001341830.1:p.Trp640Ser
NM_001354902.2:c.1823G>C NP_001341831.1:p.Trp608Ser
NM_001354903.2:c.1793G>C NP_001341832.1:p.Trp598Ser
NM_001354904.2:c.1718G>C NP_001341833.1:p.Trp573Ser
NM_001354905.2:c.1616G>C NP_001341834.1:p.Trp539Ser
NM_001354906.2:c.1247G>C NP_001341835.1:p.Trp416Ser