Canonical Allele Identifier: CA1017382353

Gene: CTNNBL1

Linked Data

• dbSNP Id: rs2072949533
• gnomAD v3: 20-37712697-T-C
• gnomAD v4: 20-37712697-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37712697T>C , CM000682.2:g.37712697T>C	GRCh38
NC_000020.10:g.36341099T>C , CM000682.1:g.36341099T>C	GRCh37
NC_000020.9:g.35774513T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361383.11:c.30+18545T>C MANE Select	ENSP00000355050.6:n.30+18545T>C
ENST00000361383.10:c.30+18545T>C	ENSP00000355050.6:n.30+18545T>C
ENST00000405275.6:c.-152-14605T>C	ENSP00000384355.2:n.-152-14605T>C
ENST00000447935.3:c.-52+17664T>C	ENSP00000394464.1:n.-52+17664T>C
ENST00000621317.4:c.30+18545T>C	ENSP00000478532.1:n.30+18545T>C
ENST00000628103.2:c.-152-14605T>C	ENSP00000487198.1:n.-152-14605T>C
NM_001281495.1:c.-152-14605T>C	NP_001268424.1:n.-152-14605T>C
NM_030877.4:c.30+18545T>C	NP_110517.2:n.30+18545T>C
XM_024451947.1:c.-52+17664T>C	XP_024307715.1:n.-52+17664T>C
NM_030877.5:c.30+18545T>C MANE Select	NP_110517.2:n.30+18545T>C
NM_001281495.2:c.-152-14605T>C	NP_001268424.1:n.-152-14605T>C