Canonical Allele Identifier: CA340951925

Gene: BCL10

Linked Data

• dbSNP Id: rs2100748046
• gnomAD v4: 1-85270837-C-T
• MyVariant Identifiers: chr1:g.85736520C>T (hg19) ; chr1:g.85270837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.85270837C>T , CM000663.2:g.85270837C>T	GRCh38
NC_000001.10:g.85736520C>T , CM000663.1:g.85736520C>T	GRCh37
NC_000001.9:g.85509108C>T	NCBI36
NG_012216.1:g.12064G>A
NG_012216.2:g.11068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620248.3:c.127G>A	ENSP00000480561.2:p.Ala43Thr
ENST00000620248.2:c.127G>A	ENSP00000480561.2:p.Ala43Thr
ENST00000648566.1:c.127G>A MANE Select	ENSP00000498104.1:p.Ala43Thr
ENST00000649060.1:c.*1236G>A	ENSP00000497490.1:n.*1236G>A
ENST00000649434.1:n.193G>A
ENST00000650582.1:n.658G>A
ENST00000370580.5:c.127G>A	ENSP00000359612.1:p.Ala43Thr
ENST00000620248.1:c.127G>A	ENSP00000480561.1:p.Ala43Thr
NM_003921.4:c.127G>A	NP_003912.1:p.Ala43Thr
XM_005271311.2:c.127G>A	XP_005271368.1:p.Ala43Thr
XM_011542397.1:c.286G>A	XP_011540699.1:p.Ala96Thr
XM_011542398.1:c.286G>A	XP_011540700.1:p.Ala96Thr
XM_011542399.1:c.73G>A	XP_011540701.1:p.Ala25Thr
NM_001320715.1:c.127G>A	NP_001307644.1:p.Ala43Thr
NM_003921.5:c.127G>A MANE Select	NP_003912.1:p.Ala43Thr
XM_011542397.3:c.286G>A	XP_011540699.1:p.Ala96Thr
XM_011542398.2:c.286G>A	XP_011540700.1:p.Ala96Thr
XM_011542399.2:c.73G>A	XP_011540701.1:p.Ala25Thr
NM_001320715.2:c.127G>A	NP_001307644.1:p.Ala43Thr