Canonical Allele Identifier: CA477374840
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1631477
ClinVar RCV Id: RCV002128095
dbSNP Id: rs1426838858
MyVariant Identifiers: chr11:g.119077256C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206546C>T , CM000673.2:g.119206546C>T GRCh38
NC_000011.9:g.119077256C>T , CM000673.1:g.119077256C>T GRCh37
NC_000011.8:g.118582466C>T NCBI36
NG_016808.1:g.5267C>T , LRG_608:g.5267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.129C>T ENSP00000515005.1:p.Leu43=
ENST00000264033.6:c.129C>T MANE Select ENSP00000264033.3:p.Leu43=
ENST00000637974.1:c.123C>T ENSP00000490763.1:p.Leu41=
ENST00000264033.5:c.129C>T ENSP00000264033.3:p.Leu43=
ENST00000634586.1:c.129C>T ENSP00000489218.1:p.Leu43=
ENST00000634840.1:c.129C>T ENSP00000489324.1:p.Leu43=
NM_005188.3:c.129C>T , LRG_608t1:c.129C>T NP_005179.2:p.Leu43=
XM_011543057.1:c.129C>T XP_011541359.1:p.Leu43=
NM_005188.4:c.129C>T MANE Select NP_005179.2:p.Leu43=