Canonical Allele Identifier: CA340949442

Gene: BCL10

Linked Data

• dbSNP Id: rs1466591452
• gnomAD v2: 1-85733608-C-T
• gnomAD v4: 1-85267925-C-T
• MyVariant Identifiers: chr1:g.85733608C>T (hg19) ; chr1:g.85267925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.85267925C>T , CM000663.2:g.85267925C>T	GRCh38
NC_000001.10:g.85733608C>T , CM000663.1:g.85733608C>T	GRCh37
NC_000001.9:g.85506196C>T	NCBI36
NG_012216.1:g.14976G>A
NG_012216.2:g.13980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620248.3:c.371G>A	ENSP00000480561.2:p.Arg124Lys
ENST00000620248.2:c.371G>A	ENSP00000480561.2:p.Arg124Lys
ENST00000648566.1:c.404G>A MANE Select	ENSP00000498104.1:p.Arg135Lys
ENST00000650582.1:n.935G>A
ENST00000370580.5:c.404G>A	ENSP00000359612.1:p.Arg135Lys
ENST00000620248.1:c.371G>A	ENSP00000480561.1:p.Arg124Lys
NM_003921.4:c.404G>A	NP_003912.1:p.Arg135Lys
XM_005271311.2:c.371G>A	XP_005271368.1:p.Arg124Lys
XM_011542397.1:c.563G>A	XP_011540699.1:p.Arg188Lys
XM_011542398.1:c.530G>A	XP_011540700.1:p.Arg177Lys
XM_011542399.1:c.350G>A	XP_011540701.1:p.Arg117Lys
NM_001320715.1:c.371G>A	NP_001307644.1:p.Arg124Lys
NM_003921.5:c.404G>A MANE Select	NP_003912.1:p.Arg135Lys
XM_011542397.3:c.563G>A	XP_011540699.1:p.Arg188Lys
XM_011542398.2:c.530G>A	XP_011540700.1:p.Arg177Lys
XM_011542399.2:c.350G>A	XP_011540701.1:p.Arg117Lys
NM_001320715.2:c.371G>A	NP_001307644.1:p.Arg124Lys