Canonical Allele Identifier: CA027830
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 559962
dbSNP Id: rs368434773

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827162T>C , CM000667.2:g.112827162T>C GRCh38
NC_000005.9:g.112162859T>C , CM000667.1:g.112162859T>C GRCh37
NC_000005.8:g.112190758T>C NCBI36
NG_008481.4:g.139642T>C , LRG_130:g.139642T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1408+5171T>C ENSP00000484935.2:n.1408+5171T>C
ENST00000504915.3:c.1517T>C ENSP00000473355.2:p.Leu506Pro
ENST00000505084.2:n.1519T>C
ENST00000505350.2:c.*1469T>C ENSP00000481752.1:n.*1469T>C
ENST00000507379.6:c.1409T>C ENSP00000423224.2:p.Leu470Pro
ENST00000509732.6:c.1463T>C ENSP00000426541.2:p.Leu488Pro
ENST00000512211.7:c.1463T>C ENSP00000423828.3:p.Leu488Pro
ENST00000257430.9:c.1463T>C MANE Select ENSP00000257430.4:p.Leu488Pro
ENST00000257430.8:c.1463T>C ENSP00000257430.4:p.Leu488Pro
ENST00000502371.2:c.96+5171T>C
ENST00000504915.2:c.152T>C ENSP00000473355.1:p.Leu51Pro
ENST00000507379.5:c.1409T>C ENSP00000423224.1:p.Leu470Pro
ENST00000508376.6:c.1463T>C ENSP00000427089.2:p.Leu488Pro
ENST00000508624.5:c.*785T>C ENSP00000424265.1:n.*785T>C
ENST00000512211.6:c.1463T>C ENSP00000423828.2:p.Leu488Pro
NM_000038.5:c.1463T>C NP_000029.2:p.Leu488Pro
NM_001127510.2:c.1463T>C NP_001120982.1:p.Leu488Pro
NM_001127511.2:c.1409T>C NP_001120983.2:p.Leu470Pro
NM_001354895.1:c.1463T>C NP_001341824.1:p.Leu488Pro
NM_001354896.1:c.1517T>C NP_001341825.1:p.Leu506Pro
NM_001354897.1:c.1493T>C NP_001341826.1:p.Leu498Pro
NM_001354898.1:c.1388T>C NP_001341827.1:p.Leu463Pro
NM_001354899.1:c.1379T>C NP_001341828.1:p.Leu460Pro
NM_001354900.1:c.1340T>C NP_001341829.1:p.Leu447Pro
NM_001354901.1:c.1286T>C NP_001341830.1:p.Leu429Pro
NM_001354902.1:c.1190T>C NP_001341831.1:p.Leu397Pro
NM_001354903.1:c.1160T>C NP_001341832.1:p.Leu387Pro
NM_001354904.1:c.1085T>C NP_001341833.1:p.Leu362Pro
NM_001354905.1:c.983T>C NP_001341834.1:p.Leu328Pro
NM_001354906.1:c.614T>C NP_001341835.1:p.Leu205Pro
NM_000038.6:c.1463T>C MANE Select NP_000029.2:p.Leu488Pro
NM_001127510.3:c.1463T>C NP_001120982.1:p.Leu488Pro
NM_001127511.3:c.1409T>C NP_001120983.2:p.Leu470Pro
NM_001354895.2:c.1463T>C NP_001341824.1:p.Leu488Pro
NM_001354896.2:c.1517T>C NP_001341825.1:p.Leu506Pro
NM_001354897.2:c.1493T>C NP_001341826.1:p.Leu498Pro
NM_001354898.2:c.1388T>C NP_001341827.1:p.Leu463Pro
NM_001354899.2:c.1379T>C NP_001341828.1:p.Leu460Pro
NM_001354900.2:c.1340T>C NP_001341829.1:p.Leu447Pro
NM_001354901.2:c.1286T>C NP_001341830.1:p.Leu429Pro
NM_001354902.2:c.1190T>C NP_001341831.1:p.Leu397Pro
NM_001354903.2:c.1160T>C NP_001341832.1:p.Leu387Pro
NM_001354904.2:c.1085T>C NP_001341833.1:p.Leu362Pro
NM_001354905.2:c.983T>C NP_001341834.1:p.Leu328Pro
NM_001354906.2:c.614T>C NP_001341835.1:p.Leu205Pro