Canonical Allele Identifier: CA445755680
Community Standard Title: NM_000038.6(APC):c.847C>A (p.Arg283=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815507C>A , CM000667.2:g.112815507C>A GRCh38
NC_000005.9:g.112151204C>A , CM000667.1:g.112151204C>A GRCh37
NC_000005.8:g.112179103C>A NCBI36
NG_008481.4:g.127987C>A , LRG_130:g.127987C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.847C>A MANE Select NP_000029.2:p.Arg283=
ENST00000257430.9:c.847C>A MANE Select ENSP00000257430.4:p.Arg283=
NM_000038.5:c.847C>A NP_000029.2:p.Arg283=
NM_001127510.2:c.847C>A NP_001120982.1:p.Arg283=
NM_001127510.3:c.847C>A NP_001120982.1:p.Arg283=
NM_001127511.2:c.793C>A NP_001120983.2:p.Arg265=
NM_001127511.3:c.793C>A NP_001120983.2:p.Arg265=
NM_001354895.1:c.847C>A NP_001341824.1:p.Arg283=
NM_001354895.2:c.847C>A NP_001341824.1:p.Arg283=
NM_001354896.1:c.847C>A NP_001341825.1:p.Arg283=
NM_001354896.2:c.847C>A NP_001341825.1:p.Arg283=
NM_001354897.1:c.877C>A NP_001341826.1:p.Arg293=
NM_001354897.2:c.877C>A NP_001341826.1:p.Arg293=
NM_001354898.1:c.772C>A NP_001341827.1:p.Arg258=
NM_001354898.2:c.772C>A NP_001341827.1:p.Arg258=
NM_001354899.1:c.763C>A NP_001341828.1:p.Arg255=
NM_001354899.2:c.763C>A NP_001341828.1:p.Arg255=
NM_001354900.1:c.670C>A NP_001341829.1:p.Arg224=
NM_001354900.2:c.670C>A NP_001341829.1:p.Arg224=
NM_001354901.1:c.670C>A NP_001341830.1:p.Arg224=
NM_001354901.2:c.670C>A NP_001341830.1:p.Arg224=
NM_001354902.1:c.877C>A NP_001341831.1:p.Arg293=
NM_001354902.2:c.877C>A NP_001341831.1:p.Arg293=
NM_001354903.1:c.847C>A NP_001341832.1:p.Arg283=
NM_001354903.2:c.847C>A NP_001341832.1:p.Arg283=
NM_001354904.1:c.772C>A NP_001341833.1:p.Arg258=
NM_001354904.2:c.772C>A NP_001341833.1:p.Arg258=
NM_001354905.1:c.670C>A NP_001341834.1:p.Arg224=
NM_001354905.2:c.670C>A NP_001341834.1:p.Arg224=
NM_001354906.1:c.-3C>A NP_001341835.1:n.-3C>A
NM_001354906.2:c.-3C>A NP_001341835.1:n.-3C>A
ENST00000257430.8:c.847C>A ENSP00000257430.4:p.Arg283=
ENST00000502371.3:c.847C>A ENSP00000484935.2:p.Arg283=
ENST00000504915.3:c.847C>A ENSP00000473355.2:p.Arg283=
ENST00000505084.2:n.903C>A
ENST00000505350.2:c.*853C>A ENSP00000481752.1:n.*853C>A
ENST00000507379.5:c.793C>A ENSP00000423224.1:p.Arg265=
ENST00000507379.6:c.793C>A ENSP00000423224.2:p.Arg265=
ENST00000508376.6:c.847C>A ENSP00000427089.2:p.Arg283=
ENST00000508624.5:c.*169C>A ENSP00000424265.1:n.*169C>A
ENST00000509732.6:c.847C>A ENSP00000426541.2:p.Arg283=
ENST00000512211.6:c.847C>A ENSP00000423828.2:p.Arg283=
ENST00000512211.7:c.847C>A ENSP00000423828.3:p.Arg283=