Canonical Allele Identifier: CA2724944584
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs756550704

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278302G>T , CM000673.2:g.119278302G>T GRCh38
NC_000011.9:g.119149012G>T , CM000673.1:g.119149012G>T GRCh37
NC_000011.8:g.118654222G>T NCBI36
NG_016808.1:g.77023G>T , LRG_608:g.77023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*679+5G>T ENSP00000515005.1:n.*679+5G>T
ENST00000264033.6:c.1227+5G>T MANE Select ENSP00000264033.3:n.1227+5G>T
ENST00000637974.1:c.1221+5G>T ENSP00000490763.1:n.1221+5G>T
ENST00000264033.5:c.1227+5G>T ENSP00000264033.3:n.1227+5G>T
ENST00000634586.1:c.1227+5G>T ENSP00000489218.1:n.1227+5G>T
ENST00000634840.1:c.1227+5G>T ENSP00000489324.1:n.1227+5G>T
NM_005188.3:c.1227+5G>T , LRG_608t1:c.1227+5G>T NP_005179.2:n.1227+5G>T
XM_011543057.1:c.1227+5G>T XP_011541359.1:n.1227+5G>T
NM_005188.4:c.1227+5G>T MANE Select NP_005179.2:n.1227+5G>T