Canonical Allele Identifier: CA363473836
Community Standard Title: NM_001320.7(CSNK2B):c.291+1G>T
Gene: CSNK2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31668655G>T , CM000668.2:g.31668655G>T GRCh38
NC_000006.11:g.31636432G>T , CM000668.1:g.31636432G>T GRCh37
NC_000006.10:g.31744411G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001320.7:c.291+1G>T MANE Select NP_001311.3:n.291+1G>T
ENST00000375882.7:c.291+1G>T MANE Select ENSP00000365042.3:n.291+1G>T
NM_001282385.1:c.291+1G>T NP_001269314.1:n.291+1G>T
NM_001282385.2:c.291+1G>T NP_001269314.1:n.291+1G>T
NM_001320.6:c.291+1G>T NP_001311.3:n.291+1G>T
ENST00000375865.6:c.291+1G>T ENSP00000365025.2:n.291+1G>T
ENST00000375866.2:c.291+1G>T ENSP00000365026.2:n.291+1G>T
ENST00000375880.6:c.291+1G>T ENSP00000365040.2:n.291+1G>T
ENST00000375882.6:c.291+1G>T ENSP00000365042.2:n.291+1G>T
ENST00000375885.8:c.348+1G>T ENSP00000365046.4:n.348+1G>T
ENST00000465481.6:n.993G>T
ENST00000468255.5:n.431G>T
ENST00000475875.2:n.1942+1G>T
ENST00000481269.1:n.417+1G>T
ENST00000617558.2:c.291+1G>T ENSP00000483989.2:n.291+1G>T
ENST00000677388.1:c.*77+1G>T ENSP00000504290.1:n.*77+1G>T
ENST00000677536.1:c.348+1G>T ENSP00000502967.1:n.348+1G>T
ENST00000677758.1:c.349G>T ENSP00000504242.1:p.Val117Leu