Canonical Allele Identifier: CA005184
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 127277
dbSNP Id: rs587779782

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827161C>T , CM000667.2:g.112827161C>T GRCh38
NC_000005.9:g.112162858C>T , CM000667.1:g.112162858C>T GRCh37
NC_000005.8:g.112190757C>T NCBI36
NG_008481.4:g.139641C>T , LRG_130:g.139641C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1408+5170C>T ENSP00000484935.2:n.1408+5170C>T
ENST00000504915.3:c.1516C>T ENSP00000473355.2:p.Leu506Phe
ENST00000505084.2:n.1518C>T
ENST00000505350.2:c.*1468C>T ENSP00000481752.1:n.*1468C>T
ENST00000507379.6:c.1408C>T ENSP00000423224.2:p.Leu470Phe
ENST00000509732.6:c.1462C>T ENSP00000426541.2:p.Leu488Phe
ENST00000512211.7:c.1462C>T ENSP00000423828.3:p.Leu488Phe
ENST00000257430.9:c.1462C>T MANE Select ENSP00000257430.4:p.Leu488Phe
ENST00000257430.8:c.1462C>T ENSP00000257430.4:p.Leu488Phe
ENST00000502371.2:c.96+5170C>T
ENST00000504915.2:c.151C>T ENSP00000473355.1:p.Leu51Phe
ENST00000507379.5:c.1408C>T ENSP00000423224.1:p.Leu470Phe
ENST00000508376.6:c.1462C>T ENSP00000427089.2:p.Leu488Phe
ENST00000508624.5:c.*784C>T ENSP00000424265.1:n.*784C>T
ENST00000512211.6:c.1462C>T ENSP00000423828.2:p.Leu488Phe
NM_000038.5:c.1462C>T NP_000029.2:p.Leu488Phe
NM_001127510.2:c.1462C>T NP_001120982.1:p.Leu488Phe
NM_001127511.2:c.1408C>T NP_001120983.2:p.Leu470Phe
NM_001354895.1:c.1462C>T NP_001341824.1:p.Leu488Phe
NM_001354896.1:c.1516C>T NP_001341825.1:p.Leu506Phe
NM_001354897.1:c.1492C>T NP_001341826.1:p.Leu498Phe
NM_001354898.1:c.1387C>T NP_001341827.1:p.Leu463Phe
NM_001354899.1:c.1378C>T NP_001341828.1:p.Leu460Phe
NM_001354900.1:c.1339C>T NP_001341829.1:p.Leu447Phe
NM_001354901.1:c.1285C>T NP_001341830.1:p.Leu429Phe
NM_001354902.1:c.1189C>T NP_001341831.1:p.Leu397Phe
NM_001354903.1:c.1159C>T NP_001341832.1:p.Leu387Phe
NM_001354904.1:c.1084C>T NP_001341833.1:p.Leu362Phe
NM_001354905.1:c.982C>T NP_001341834.1:p.Leu328Phe
NM_001354906.1:c.613C>T NP_001341835.1:p.Leu205Phe
NM_000038.6:c.1462C>T MANE Select NP_000029.2:p.Leu488Phe
NM_001127510.3:c.1462C>T NP_001120982.1:p.Leu488Phe
NM_001127511.3:c.1408C>T NP_001120983.2:p.Leu470Phe
NM_001354895.2:c.1462C>T NP_001341824.1:p.Leu488Phe
NM_001354896.2:c.1516C>T NP_001341825.1:p.Leu506Phe
NM_001354897.2:c.1492C>T NP_001341826.1:p.Leu498Phe
NM_001354898.2:c.1387C>T NP_001341827.1:p.Leu463Phe
NM_001354899.2:c.1378C>T NP_001341828.1:p.Leu460Phe
NM_001354900.2:c.1339C>T NP_001341829.1:p.Leu447Phe
NM_001354901.2:c.1285C>T NP_001341830.1:p.Leu429Phe
NM_001354902.2:c.1189C>T NP_001341831.1:p.Leu397Phe
NM_001354903.2:c.1159C>T NP_001341832.1:p.Leu387Phe
NM_001354904.2:c.1084C>T NP_001341833.1:p.Leu362Phe
NM_001354905.2:c.982C>T NP_001341834.1:p.Leu328Phe
NM_001354906.2:c.613C>T NP_001341835.1:p.Leu205Phe