Canonical Allele Identifier: CA929722

Gene: BCL10

Linked Data

• ClinVar Variation Id: 402410
• ClinVar RCV Id: RCV000454380 ; RCV001520833
• dbSNP Id: rs3768235
• ExAC: 1:85733374 C / T
• gnomAD v2: 1-85733374-C-T
• gnomAD v3: 1-85267691-C-T
• gnomAD v4: 1-85267691-C-T
• MyVariant Identifiers: chr1:g.85733374C>T (hg19) ; chr1:g.85733374_85733377delinsTCTT (hg19) ; chr1:g.85267691C>T (hg38) ; chr1:g.85267691_85267694delinsTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.85267691C>T , CM000663.2:g.85267691C>T	GRCh38
NC_000001.10:g.85733374C>T , CM000663.1:g.85733374C>T	GRCh37
NC_000001.9:g.85505962C>T	NCBI36
NG_012216.1:g.15210G>A
NG_012216.2:g.14214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620248.3:c.605G>A	ENSP00000480561.2:p.Gly202Glu
ENST00000620248.2:c.605G>A	ENSP00000480561.2:p.Gly202Glu
ENST00000648566.1:c.638G>A MANE Select	ENSP00000498104.1:p.Gly213Glu
ENST00000370580.5:c.638G>A	ENSP00000359612.1:p.Gly213Glu
ENST00000620248.1:c.*132G>A	ENSP00000480561.1:n.*132G>A
NM_003921.4:c.638G>A	NP_003912.1:p.Gly213Glu
XM_005271311.2:c.605G>A	XP_005271368.1:p.Gly202Glu
XM_011542397.1:c.797G>A	XP_011540699.1:p.Gly266Glu
XM_011542398.1:c.764G>A	XP_011540700.1:p.Gly255Glu
XM_011542399.1:c.584G>A	XP_011540701.1:p.Gly195Glu
NM_001320715.1:c.605G>A	NP_001307644.1:p.Gly202Glu
NM_003921.5:c.638G>A MANE Select	NP_003912.1:p.Gly213Glu
XM_011542397.3:c.797G>A	XP_011540699.1:p.Gly266Glu
XM_011542398.2:c.764G>A	XP_011540700.1:p.Gly255Glu
XM_011542399.2:c.584G>A	XP_011540701.1:p.Gly195Glu
NM_001320715.2:c.605G>A	NP_001307644.1:p.Gly202Glu