Canonical Allele Identifier: CA340951604
Gene: BCL10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.85270750A>T , CM000663.2:g.85270750A>T GRCh38
NC_000001.10:g.85736433A>T , CM000663.1:g.85736433A>T GRCh37
NC_000001.9:g.85509021A>T NCBI36
NG_012216.1:g.12151T>A
NG_012216.2:g.11155T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000620248.3:c.214T>A ENSP00000480561.2:p.Leu72Ile
ENST00000620248.2:c.214T>A ENSP00000480561.2:p.Leu72Ile
ENST00000648566.1:c.214T>A MANE Select ENSP00000498104.1:p.Leu72Ile
ENST00000649434.1:n.280T>A
ENST00000650582.1:n.745T>A
ENST00000370580.5:c.214T>A ENSP00000359612.1:p.Leu72Ile
ENST00000620248.1:c.214T>A ENSP00000480561.1:p.Leu72Ile
NM_003921.4:c.214T>A NP_003912.1:p.Leu72Ile
XM_005271311.2:c.214T>A XP_005271368.1:p.Leu72Ile
XM_011542397.1:c.373T>A XP_011540699.1:p.Leu125Ile
XM_011542398.1:c.373T>A XP_011540700.1:p.Leu125Ile
XM_011542399.1:c.160T>A XP_011540701.1:p.Leu54Ile
NM_001320715.1:c.214T>A NP_001307644.1:p.Leu72Ile
NM_003921.5:c.214T>A MANE Select NP_003912.1:p.Leu72Ile
XM_011542397.3:c.373T>A XP_011540699.1:p.Leu125Ile
XM_011542398.2:c.373T>A XP_011540700.1:p.Leu125Ile
XM_011542399.2:c.160T>A XP_011540701.1:p.Leu54Ile
NM_001320715.2:c.214T>A NP_001307644.1:p.Leu72Ile