Canonical Allele Identifier: CA130428

Gene: CTNNB1

Linked Data

• ClinVar Variation Id: 39655
• ClinVar RCV Id: RCV000032859 ; RCV000255163 ; RCV002496492
• dbSNP Id: rs397514554
• COSMIC: COSM5576265
• MyVariant Identifiers: chr3:g.41275648C>T (hg19) ; chr3:g.41234157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.41234157C>T , CM000665.2:g.41234157C>T	GRCh38
NC_000003.11:g.41275648C>T , CM000665.1:g.41275648C>T	GRCh37
NC_000003.10:g.41250652C>T	NCBI36
NG_013302.1:g.39707C>T
NG_013302.2:g.39707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349496.11:c.1543C>T MANE Select	ENSP00000344456.5:p.Arg515Ter
ENST00000396185.8:c.1543C>T	ENSP00000379488.3:p.Arg515Ter
ENST00000405570.6:c.1543C>T	ENSP00000385604.1:p.Arg515Ter
ENST00000431914.6:c.1543C>T	ENSP00000412219.2:p.Arg515Ter
ENST00000433400.6:c.1543C>T	ENSP00000387455.2:p.Arg515Ter
ENST00000441708.2:c.1543C>T	ENSP00000401599.2:p.Arg515Ter
ENST00000450969.6:c.1543C>T	ENSP00000409302.2:p.Arg515Ter
ENST00000453024.6:c.1522C>T	ENSP00000411226.1:p.Arg508Ter
ENST00000465552.2:n.4C>T
ENST00000485265.2:n.749C>T
ENST00000642248.1:c.1543C>T	ENSP00000495244.1:p.Arg515Ter
ENST00000642315.1:c.1543C>T	ENSP00000495076.1:p.Arg515Ter
ENST00000642426.1:c.1543C>T	ENSP00000495719.1:p.Arg515Ter
ENST00000642836.1:c.1522C>T	ENSP00000496295.1:p.Arg508Ter
ENST00000642886.1:c.1432C>T	ENSP00000496020.1:p.Arg478Ter
ENST00000642986.1:c.1411C>T	ENSP00000494422.1:p.Arg471Ter
ENST00000642992.1:c.1543C>T	ENSP00000496385.1:p.Arg515Ter
ENST00000643031.1:c.1543C>T	ENSP00000495450.1:p.Arg515Ter
ENST00000643052.1:n.2046C>T
ENST00000643297.1:c.1543C>T	ENSP00000494677.1:p.Arg515Ter
ENST00000643541.1:c.1543C>T	ENSP00000494411.1:p.Arg515Ter
ENST00000643865.1:n.1930C>T
ENST00000643977.1:c.1543C>T	ENSP00000494053.1:p.Arg515Ter
ENST00000643992.1:c.1543C>T	ENSP00000493610.1:p.Arg515Ter
ENST00000644138.1:c.1543C>T	ENSP00000496649.1:p.Arg515Ter
ENST00000644395.1:n.305C>T
ENST00000644524.1:c.1522C>T	ENSP00000494780.1:p.Arg508Ter
ENST00000644678.1:c.1522C>T	ENSP00000495794.1:p.Arg508Ter
ENST00000644867.1:c.1543C>T	ENSP00000495992.1:p.Arg515Ter
ENST00000644873.1:c.1543C>T	ENSP00000496511.1:p.Arg515Ter
ENST00000644906.1:c.382C>T	ENSP00000496584.1:p.Arg128Ter
ENST00000645210.1:c.1543C>T	ENSP00000496180.1:p.Arg515Ter
ENST00000645276.1:c.1549C>T	ENSP00000494654.1:p.Arg517Ter
ENST00000645305.1:n.1947C>T
ENST00000645320.1:c.1543C>T	ENSP00000495360.1:p.Arg515Ter
ENST00000645493.1:c.1522C>T	ENSP00000494467.1:p.Arg508Ter
ENST00000645763.1:n.880C>T
ENST00000645900.1:c.1522C>T	ENSP00000495286.1:p.Arg508Ter
ENST00000645927.1:c.557C>T
ENST00000645982.1:c.1543C>T	ENSP00000494845.1:p.Arg515Ter
ENST00000646074.1:c.1543C>T	ENSP00000494263.1:p.Arg515Ter
ENST00000646116.1:c.1522C>T	ENSP00000495426.1:p.Arg508Ter
ENST00000646174.1:c.1522C>T	ENSP00000495161.1:p.Arg508Ter
ENST00000646369.1:c.1543C>T	ENSP00000494914.1:p.Arg515Ter
ENST00000646381.1:c.1522C>T	ENSP00000496067.1:p.Arg508Ter
ENST00000646725.1:c.1543C>T	ENSP00000496021.1:p.Arg515Ter
ENST00000647021.1:n.2064C>T
ENST00000647264.1:c.1504-48C>T	ENSP00000494849.1:n.1504-48C>T
ENST00000647390.1:c.1543C>T	ENSP00000493533.1:p.Arg515Ter
ENST00000647413.1:c.1543C>T	ENSP00000493583.1:p.Arg515Ter
ENST00000349496.9:c.1543C>T	ENSP00000344456.5:p.Arg515Ter
ENST00000396183.7:c.1543C>T	ENSP00000379486.3:p.Arg515Ter
ENST00000396185.7:c.1543C>T	ENSP00000379488.3:p.Arg515Ter
ENST00000405570.5:c.1543C>T	ENSP00000385604.1:p.Arg515Ter
ENST00000453024.5:c.1522C>T	ENSP00000411226.1:p.Arg508Ter
ENST00000465552.1:n.4C>T
NM_001098209.1:c.1543C>T	NP_001091679.1:p.Arg515Ter
NM_001098210.1:c.1543C>T	NP_001091680.1:p.Arg515Ter
NM_001904.3:c.1543C>T	NP_001895.1:p.Arg515Ter
XM_005264886.2:c.1543C>T	XP_005264943.1:p.Arg515Ter
XM_006712983.1:c.1522C>T	XP_006713046.1:p.Arg508Ter
XM_006712984.1:c.1522C>T	XP_006713047.1:p.Arg508Ter
XM_006712985.1:c.1543C>T	XP_006713048.1:p.Arg515Ter
NM_001330729.1:c.1522C>T	NP_001317658.1:p.Arg508Ter
XM_006712983.2:c.1522C>T	XP_006713046.1:p.Arg508Ter
XM_017005738.1:c.1543C>T	XP_016861227.1:p.Arg515Ter
XM_024453356.1:c.1543C>T	XP_024309124.1:p.Arg515Ter
XM_024453357.1:c.1543C>T	XP_024309125.1:p.Arg515Ter
XM_024453358.1:c.1543C>T	XP_024309126.1:p.Arg515Ter
XM_024453359.1:c.1522C>T	XP_024309127.1:p.Arg508Ter
XM_024453360.1:c.1522C>T	XP_024309128.1:p.Arg508Ter
NM_001904.4:c.1543C>T MANE Select	NP_001895.1:p.Arg515Ter
NM_001098209.2:c.1543C>T	NP_001091679.1:p.Arg515Ter
NM_001098210.2:c.1543C>T	NP_001091680.1:p.Arg515Ter
NM_001330729.2:c.1522C>T	NP_001317658.1:p.Arg508Ter