Canonical Allele Identifier: CA445963422
Community Standard Title: NM_000038.6(APC):c.2109A>C (p.Ala703=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837703A>C , CM000667.2:g.112837703A>C GRCh38
NC_000005.9:g.112173400A>C , CM000667.1:g.112173400A>C GRCh37
NC_000005.8:g.112201299A>C NCBI36
NG_008481.4:g.150183A>C , LRG_130:g.150183A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.2109A>C MANE Select NP_000029.2:p.Ala703=
ENST00000257430.9:c.2109A>C MANE Select ENSP00000257430.4:p.Ala703=
NM_000038.5:c.2109A>C NP_000029.2:p.Ala703=
NM_001127510.2:c.2109A>C NP_001120982.1:p.Ala703=
NM_001127510.3:c.2109A>C NP_001120982.1:p.Ala703=
NM_001127511.2:c.2055A>C NP_001120983.2:p.Ala685=
NM_001127511.3:c.2055A>C NP_001120983.2:p.Ala685=
NM_001354895.1:c.2109A>C NP_001341824.1:p.Ala703=
NM_001354895.2:c.2109A>C NP_001341824.1:p.Ala703=
NM_001354896.1:c.2163A>C NP_001341825.1:p.Ala721=
NM_001354896.2:c.2163A>C NP_001341825.1:p.Ala721=
NM_001354897.1:c.2139A>C NP_001341826.1:p.Ala713=
NM_001354897.2:c.2139A>C NP_001341826.1:p.Ala713=
NM_001354898.1:c.2034A>C NP_001341827.1:p.Ala678=
NM_001354898.2:c.2034A>C NP_001341827.1:p.Ala678=
NM_001354899.1:c.2025A>C NP_001341828.1:p.Ala675=
NM_001354899.2:c.2025A>C NP_001341828.1:p.Ala675=
NM_001354900.1:c.1986A>C NP_001341829.1:p.Ala662=
NM_001354900.2:c.1986A>C NP_001341829.1:p.Ala662=
NM_001354901.1:c.1932A>C NP_001341830.1:p.Ala644=
NM_001354901.2:c.1932A>C NP_001341830.1:p.Ala644=
NM_001354902.1:c.1836A>C NP_001341831.1:p.Ala612=
NM_001354902.2:c.1836A>C NP_001341831.1:p.Ala612=
NM_001354903.1:c.1806A>C NP_001341832.1:p.Ala602=
NM_001354903.2:c.1806A>C NP_001341832.1:p.Ala602=
NM_001354904.1:c.1731A>C NP_001341833.1:p.Ala577=
NM_001354904.2:c.1731A>C NP_001341833.1:p.Ala577=
NM_001354905.1:c.1629A>C NP_001341834.1:p.Ala543=
NM_001354905.2:c.1629A>C NP_001341834.1:p.Ala543=
NM_001354906.1:c.1260A>C NP_001341835.1:p.Ala420=
NM_001354906.2:c.1260A>C NP_001341835.1:p.Ala420=
ENST00000257430.8:c.2109A>C ENSP00000257430.4:p.Ala703=
ENST00000502371.2:c.462A>C
ENST00000502371.3:c.1774A>C ENSP00000484935.2:n.1774A>C
ENST00000504915.2:c.798A>C ENSP00000473355.1:p.Ala266=
ENST00000504915.3:c.2163A>C ENSP00000473355.2:p.Ala721=
ENST00000505350.2:c.*2115A>C ENSP00000481752.1:n.*2115A>C
ENST00000507379.5:c.2055A>C ENSP00000423224.1:p.Ala685=
ENST00000507379.6:c.2055A>C ENSP00000423224.2:p.Ala685=
ENST00000508376.6:c.2109A>C ENSP00000427089.2:p.Ala703=
ENST00000508624.5:c.*1431A>C ENSP00000424265.1:n.*1431A>C
ENST00000509732.6:c.2109A>C ENSP00000426541.2:p.Ala703=
ENST00000512211.6:c.2109A>C ENSP00000423828.2:p.Ala703=
ENST00000512211.7:c.2109A>C ENSP00000423828.3:p.Ala703=
ENST00000520401.1:c.230+8731A>C