Canonical Allele Identifier: CA14808147

Gene: CTNNBL1

Linked Data

• dbSNP Id: rs4811196
• gnomAD v2: 20-36469694-G-A
• gnomAD v3: 20-37841292-G-A
• gnomAD v4: 20-37841292-G-A
• MyVariant Identifiers: chr20:g.36469694G>A (hg19) ; chr20:g.37841292G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37841292G>A , CM000682.2:g.37841292G>A	GRCh38
NC_000020.10:g.36469694G>A , CM000682.1:g.36469694G>A	GRCh37
NC_000020.9:g.35903108G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361383.11:c.1312-1047G>A MANE Select	ENSP00000355050.6:n.1312-1047G>A
ENST00000361383.10:c.1312-1047G>A	ENSP00000355050.6:n.1312-1047G>A
ENST00000373469.1:c.556-1047G>A	ENSP00000362568.1:n.556-1047G>A
ENST00000373473.5:c.751-1047G>A	ENSP00000362572.1:n.751-1047G>A
ENST00000405275.6:c.1231-1047G>A	ENSP00000384355.2:n.1231-1047G>A
ENST00000473857.5:n.2494-1047G>A
ENST00000621317.4:c.1327-1047G>A	ENSP00000478532.1:n.1327-1047G>A
ENST00000628103.2:c.1231-1047G>A	ENSP00000487198.1:n.1231-1047G>A
NM_001281495.1:c.1231-1047G>A	NP_001268424.1:n.1231-1047G>A
NM_030877.4:c.1312-1047G>A	NP_110517.2:n.1312-1047G>A
XM_011528917.1:c.982-1047G>A	XP_011527219.1:n.982-1047G>A
XM_011528917.2:c.982-1047G>A	XP_011527219.1:n.982-1047G>A
XM_024451947.1:c.1231-1047G>A	XP_024307715.1:n.1231-1047G>A
NM_030877.5:c.1312-1047G>A MANE Select	NP_110517.2:n.1312-1047G>A
NM_001281495.2:c.1231-1047G>A	NP_001268424.1:n.1231-1047G>A