Canonical Allele Identifier: CA016051
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 187754
dbSNP Id: rs377665107

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112819027G>A , CM000667.2:g.112819027G>A GRCh38
NC_000005.9:g.112154724G>A , CM000667.1:g.112154724G>A GRCh37
NC_000005.8:g.112182623G>A NCBI36
NG_008481.4:g.131507G>A , LRG_130:g.131507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.995G>A ENSP00000484935.2:p.Arg332Gln
ENST00000504915.3:c.995G>A ENSP00000473355.2:p.Arg332Gln
ENST00000505084.2:n.1051G>A
ENST00000505350.2:c.*1001G>A ENSP00000481752.1:n.*1001G>A
ENST00000507379.6:c.941G>A ENSP00000423224.2:p.Arg314Gln
ENST00000509732.6:c.995G>A ENSP00000426541.2:p.Arg332Gln
ENST00000512211.7:c.995G>A ENSP00000423828.3:p.Arg332Gln
ENST00000257430.9:c.995G>A MANE Select ENSP00000257430.4:p.Arg332Gln
ENST00000257430.8:c.995G>A ENSP00000257430.4:p.Arg332Gln
ENST00000507379.5:c.941G>A ENSP00000423224.1:p.Arg314Gln
ENST00000508376.6:c.995G>A ENSP00000427089.2:p.Arg332Gln
ENST00000508624.5:c.*317G>A ENSP00000424265.1:n.*317G>A
ENST00000512211.6:c.995G>A ENSP00000423828.2:p.Arg332Gln
NM_000038.5:c.995G>A NP_000029.2:p.Arg332Gln
NM_001127510.2:c.995G>A NP_001120982.1:p.Arg332Gln
NM_001127511.2:c.941G>A NP_001120983.2:p.Arg314Gln
NM_001354895.1:c.995G>A NP_001341824.1:p.Arg332Gln
NM_001354896.1:c.995G>A NP_001341825.1:p.Arg332Gln
NM_001354897.1:c.1025G>A NP_001341826.1:p.Arg342Gln
NM_001354898.1:c.920G>A NP_001341827.1:p.Arg307Gln
NM_001354899.1:c.911G>A NP_001341828.1:p.Arg304Gln
NM_001354900.1:c.818G>A NP_001341829.1:p.Arg273Gln
NM_001354901.1:c.818G>A NP_001341830.1:p.Arg273Gln
NM_001354902.1:c.964-242G>A NP_001341831.1:n.964-242G>A
NM_001354903.1:c.934-242G>A NP_001341832.1:n.934-242G>A
NM_001354904.1:c.859-242G>A NP_001341833.1:n.859-242G>A
NM_001354905.1:c.757-242G>A NP_001341834.1:n.757-242G>A
NM_001354906.1:c.146G>A NP_001341835.1:p.Arg49Gln
NM_000038.6:c.995G>A MANE Select NP_000029.2:p.Arg332Gln
NM_001127510.3:c.995G>A NP_001120982.1:p.Arg332Gln
NM_001127511.3:c.941G>A NP_001120983.2:p.Arg314Gln
NM_001354895.2:c.995G>A NP_001341824.1:p.Arg332Gln
NM_001354896.2:c.995G>A NP_001341825.1:p.Arg332Gln
NM_001354897.2:c.1025G>A NP_001341826.1:p.Arg342Gln
NM_001354898.2:c.920G>A NP_001341827.1:p.Arg307Gln
NM_001354899.2:c.911G>A NP_001341828.1:p.Arg304Gln
NM_001354900.2:c.818G>A NP_001341829.1:p.Arg273Gln
NM_001354901.2:c.818G>A NP_001341830.1:p.Arg273Gln
NM_001354902.2:c.964-242G>A NP_001341831.1:n.964-242G>A
NM_001354903.2:c.934-242G>A NP_001341832.1:n.934-242G>A
NM_001354904.2:c.859-242G>A NP_001341833.1:n.859-242G>A
NM_001354905.2:c.757-242G>A NP_001341834.1:n.757-242G>A
NM_001354906.2:c.146G>A NP_001341835.1:p.Arg49Gln