Canonical Allele Identifier: CA6010480
Gene: CTNND1 HGNC NCBI
TMX2-CTNND1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57804730C>T , CM000673.2:g.57804730C>T GRCh38
NC_000011.9:g.57572202C>T , CM000673.1:g.57572202C>T GRCh37
NC_000011.8:g.57328778C>T NCBI36
NG_029078.1:g.47969C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531007.2:c.1672C>T (CTNND1) ENSP00000431208.2:p.Leu558Phe
ENST00000681984.1:n.1941C>T (CTNND1)
ENST00000682741.1:n.2136C>T (CTNND1)
ENST00000683906.1:n.2425C>T (CTNND1)
ENST00000399050.10:c.1672C>T (CTNND1) MANE Select ENSP00000382004.5:p.Leu558Phe
ENST00000534647.2:n.2314C>T
ENST00000673661.1:n.1439C>T (CTNND1)
ENST00000673683.1:c.1672C>T (CTNND1) ENSP00000500962.1:p.Leu558Phe
ENST00000673781.1:c.*1751C>T ENSP00000501282.1:n.*1751C>T
ENST00000673810.1:c.*1831C>T ENSP00000501043.1:n.*1831C>T
ENST00000673826.1:c.1600C>T (CTNND1) ENSP00000501029.1:p.Leu534Phe
ENST00000674015.1:c.1600C>T (CTNND1) ENSP00000501126.1:p.Leu534Phe
ENST00000674060.1:c.1989C>T
ENST00000674106.1:c.1600C>T (CTNND1) ENSP00000501005.1:p.Leu534Phe
ENST00000674116.1:c.*1823C>T ENSP00000501279.1:n.*1823C>T
ENST00000358694.10:c.1672C>T (CTNND1) ENSP00000351527.6:p.Leu558Phe
ENST00000361332.8:c.1672C>T (CTNND1) ENSP00000354823.4:p.Leu558Phe
ENST00000361391.10:c.1672C>T (CTNND1) ENSP00000354785.6:p.Leu558Phe
ENST00000361796.9:c.1672C>T (CTNND1) ENSP00000354907.5:p.Leu558Phe
ENST00000399050.8:c.1672C>T (CTNND1) ENSP00000382004.4:p.Leu558Phe
ENST00000415361.6:c.1369C>T (CTNND1) ENSP00000403518.2:p.Leu457Phe
ENST00000426142.6:c.1369C>T (CTNND1) ENSP00000409930.2:p.Leu457Phe
ENST00000428599.6:c.1672C>T (CTNND1) ENSP00000413586.2:p.Leu558Phe
ENST00000524630.5:c.1672C>T (CTNND1) ENSP00000436543.1:p.Leu558Phe
ENST00000525902.5:c.703C>T (CTNND1) ENSP00000434672.1:p.Leu235Phe
ENST00000526357.5:c.1510C>T (CTNND1) ENSP00000433334.1:p.Leu504Phe
ENST00000526772.5:c.703C>T (CTNND1) ENSP00000433158.1:p.Leu235Phe
ENST00000526938.5:c.1672C>T (CTNND1) ENSP00000432041.1:p.Leu558Phe
ENST00000527467.5:c.703C>T (CTNND1) ENSP00000434900.1:p.Leu235Phe
ENST00000528232.5:c.1369C>T (CTNND1) ENSP00000435266.1:p.Leu457Phe
ENST00000528621.5:c.1510C>T (CTNND1) ENSP00000432243.1:p.Leu504Phe
ENST00000529526.5:c.1510C>T (CTNND1) ENSP00000436323.1:p.Leu504Phe
ENST00000529873.5:c.1510C>T (CTNND1) ENSP00000435494.1:p.Leu504Phe
ENST00000529919.5:c.1672C>T (CTNND1) ENSP00000434808.1:p.Leu558Phe
ENST00000529986.5:c.1369C>T (CTNND1) ENSP00000437156.1:p.Leu457Phe
ENST00000530094.5:c.1369C>T (CTNND1) ENSP00000437327.1:p.Leu457Phe
ENST00000530748.5:c.1510C>T (CTNND1) ENSP00000436744.1:p.Leu504Phe
ENST00000531014.5:c.703C>T (CTNND1) ENSP00000432623.1:p.Leu235Phe
ENST00000532245.5:c.1369C>T (CTNND1) ENSP00000434017.1:p.Leu457Phe
ENST00000532463.5:c.1369C>T (CTNND1) ENSP00000432075.1:p.Leu457Phe
ENST00000532649.5:c.1510C>T (CTNND1) ENSP00000435379.1:p.Leu504Phe
ENST00000532787.5:c.1369C>T (CTNND1) ENSP00000434949.1:p.Leu457Phe
ENST00000532844.5:c.1510C>T (CTNND1) ENSP00000433276.1:p.Leu504Phe
ENST00000533667.5:c.703C>T (CTNND1) ENSP00000437051.1:p.Leu235Phe
ENST00000534579.5:c.1510C>T (CTNND1) ENSP00000435789.1:p.Leu504Phe
NM_001085458.1:c.1672C>T (CTNND1) NP_001078927.1:p.Leu558Phe
NM_001085459.1:c.1672C>T (CTNND1) NP_001078928.1:p.Leu558Phe
NM_001085460.1:c.1672C>T (CTNND1) NP_001078929.1:p.Leu558Phe
NM_001085461.1:c.1672C>T (CTNND1) NP_001078930.1:p.Leu558Phe
NM_001085462.1:c.1672C>T (CTNND1) NP_001078931.1:p.Leu558Phe
NM_001085463.1:c.1369C>T (CTNND1) NP_001078932.1:p.Leu457Phe
NM_001085464.1:c.1369C>T (CTNND1) NP_001078933.1:p.Leu457Phe
NM_001085465.1:c.1369C>T (CTNND1) NP_001078934.1:p.Leu457Phe
NM_001085466.1:c.1369C>T (CTNND1) NP_001078935.1:p.Leu457Phe
NM_001085467.1:c.1369C>T (CTNND1) NP_001078936.1:p.Leu457Phe
NM_001085468.1:c.1369C>T (CTNND1) NP_001078937.1:p.Leu457Phe
NM_001085469.1:c.1369C>T (CTNND1) NP_001078938.1:p.Leu457Phe
NM_001206883.1:c.1510C>T (CTNND1) NP_001193812.1:p.Leu504Phe
NM_001206884.1:c.1510C>T (CTNND1) NP_001193813.1:p.Leu504Phe
NM_001206885.1:c.1672C>T (CTNND1) NP_001193814.1:p.Leu558Phe
NM_001206886.1:c.1510C>T (CTNND1) NP_001193815.1:p.Leu504Phe
NM_001206887.1:c.1510C>T (CTNND1) NP_001193816.1:p.Leu504Phe
NM_001206888.1:c.1510C>T (CTNND1) NP_001193817.1:p.Leu504Phe
NM_001206889.1:c.1510C>T (CTNND1) NP_001193818.1:p.Leu504Phe
NM_001206890.1:c.1369C>T (CTNND1) NP_001193819.1:p.Leu457Phe
NM_001206891.1:c.1510C>T (CTNND1) NP_001193820.1:p.Leu504Phe
NM_001331.2:c.1672C>T (CTNND1) NP_001322.1:p.Leu558Phe
NR_037646.1:n.2231C>T (TMX2-CTNND1)
NM_001085458.2:c.1672C>T (CTNND1) MANE Select NP_001078927.1:p.Leu558Phe
NM_001085459.2:c.1672C>T (CTNND1) NP_001078928.1:p.Leu558Phe
NM_001085460.2:c.1672C>T (CTNND1) NP_001078929.1:p.Leu558Phe
NM_001085461.2:c.1672C>T (CTNND1) NP_001078930.1:p.Leu558Phe
NM_001085462.2:c.1672C>T (CTNND1) NP_001078931.1:p.Leu558Phe
NM_001085463.2:c.1369C>T (CTNND1) NP_001078932.1:p.Leu457Phe
NM_001085464.2:c.1369C>T (CTNND1) NP_001078933.1:p.Leu457Phe
NM_001085465.2:c.1369C>T (CTNND1) NP_001078934.1:p.Leu457Phe
NM_001085466.2:c.1369C>T (CTNND1) NP_001078935.1:p.Leu457Phe
NM_001085467.2:c.1369C>T (CTNND1) NP_001078936.1:p.Leu457Phe
NM_001085468.2:c.1369C>T (CTNND1) NP_001078937.1:p.Leu457Phe
NM_001085469.2:c.1369C>T (CTNND1) NP_001078938.1:p.Leu457Phe
NM_001206883.2:c.1510C>T (CTNND1) NP_001193812.1:p.Leu504Phe
NM_001206884.2:c.1510C>T (CTNND1) NP_001193813.1:p.Leu504Phe
NM_001206885.2:c.1672C>T (CTNND1) NP_001193814.1:p.Leu558Phe
NM_001206886.2:c.1510C>T (CTNND1) NP_001193815.1:p.Leu504Phe
NM_001206887.2:c.1510C>T (CTNND1) NP_001193816.1:p.Leu504Phe
NM_001206888.2:c.1510C>T (CTNND1) NP_001193817.1:p.Leu504Phe
NM_001206889.2:c.1510C>T (CTNND1) NP_001193818.1:p.Leu504Phe
NM_001206890.2:c.1369C>T (CTNND1) NP_001193819.1:p.Leu457Phe
NM_001206891.2:c.1510C>T (CTNND1) NP_001193820.1:p.Leu504Phe
NM_001331.3:c.1672C>T (CTNND1) NP_001322.1:p.Leu558Phe