Canonical Allele Identifier: CA005169
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 42238
dbSNP Id: rs2229992

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827157T>C , CM000667.2:g.112827157T>C GRCh38
NC_000005.9:g.112162854T>C , CM000667.1:g.112162854T>C GRCh37
NC_000005.8:g.112190753T>C NCBI36
NG_008481.4:g.139637T>C , LRG_130:g.139637T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1458T>C MANE Select ENSP00000257430.4:p.Tyr486=
ENST00000257430.8:c.1458T>C ENSP00000257430.4:p.Tyr486=
ENST00000502371.2:n.96+5166T>C
ENST00000504915.2:n.147T>C ENSP00000473355.1:p.Tyr49=
ENST00000507379.5:c.1404T>C ENSP00000423224.1:p.Tyr468=
ENST00000508376.6:c.1458T>C ENSP00000427089.2:p.Tyr486=
ENST00000508624.5:c.*780T>C ENSP00000424265.1:n.*780T>C
ENST00000512211.6:c.1458T>C ENSP00000423828.2:p.Tyr486=
NM_000038.5:c.1458T>C NP_000029.2:p.Tyr486=
NM_001127510.2:c.1458T>C NP_001120982.1:p.Tyr486=
NM_001127511.2:c.1404T>C NP_001120983.2:p.Tyr468=
NM_001354895.1:c.1458T>C NP_001341824.1:p.Tyr486=
NM_001354896.1:c.1512T>C NP_001341825.1:p.Tyr504=
NM_001354897.1:c.1488T>C NP_001341826.1:p.Tyr496=
NM_001354898.1:c.1383T>C NP_001341827.1:p.Tyr461=
NM_001354899.1:c.1374T>C NP_001341828.1:p.Tyr458=
NM_001354900.1:c.1335T>C NP_001341829.1:p.Tyr445=
NM_001354901.1:c.1281T>C NP_001341830.1:p.Tyr427=
NM_001354902.1:c.1185T>C NP_001341831.1:p.Tyr395=
NM_001354903.1:c.1155T>C NP_001341832.1:p.Tyr385=
NM_001354904.1:c.1080T>C NP_001341833.1:p.Tyr360=
NM_001354905.1:c.978T>C NP_001341834.1:p.Tyr326=
NM_001354906.1:c.609T>C NP_001341835.1:p.Tyr203=
NM_000038.6:c.1458T>C MANE Select NP_000029.2:p.Tyr486=
NM_001127510.3:c.1458T>C NP_001120982.1:p.Tyr486=
NM_001127511.3:c.1404T>C NP_001120983.2:p.Tyr468=
NM_001354895.2:c.1458T>C NP_001341824.1:p.Tyr486=
NM_001354896.2:c.1512T>C NP_001341825.1:p.Tyr504=
NM_001354897.2:c.1488T>C NP_001341826.1:p.Tyr496=
NM_001354898.2:c.1383T>C NP_001341827.1:p.Tyr461=
NM_001354899.2:c.1374T>C NP_001341828.1:p.Tyr458=
NM_001354900.2:c.1335T>C NP_001341829.1:p.Tyr445=
NM_001354901.2:c.1281T>C NP_001341830.1:p.Tyr427=
NM_001354902.2:c.1185T>C NP_001341831.1:p.Tyr395=
NM_001354903.2:c.1155T>C NP_001341832.1:p.Tyr385=
NM_001354904.2:c.1080T>C NP_001341833.1:p.Tyr360=
NM_001354905.2:c.978T>C NP_001341834.1:p.Tyr326=
NM_001354906.2:c.609T>C NP_001341835.1:p.Tyr203=