Canonical Allele Identifier: CA477374723
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1618495
ClinVar RCV Id: RCV002082095
dbSNP Id: rs2135243950
MyVariant Identifiers: chr11:g.119077157G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206447G>A , CM000673.2:g.119206447G>A GRCh38
NC_000011.9:g.119077157G>A , CM000673.1:g.119077157G>A GRCh37
NC_000011.8:g.118582367G>A NCBI36
NG_016808.1:g.5168G>A , LRG_608:g.5168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.30G>A ENSP00000515005.1:p.Gly10=
ENST00000264033.6:c.30G>A MANE Select ENSP00000264033.3:p.Gly10=
ENST00000637974.1:c.24G>A ENSP00000490763.1:p.Gly8=
ENST00000264033.5:c.30G>A ENSP00000264033.3:p.Gly10=
ENST00000634586.1:c.30G>A ENSP00000489218.1:p.Gly10=
ENST00000634840.1:c.30G>A ENSP00000489324.1:p.Gly10=
NM_005188.3:c.30G>A , LRG_608t1:c.30G>A NP_005179.2:p.Gly10=
XM_011543057.1:c.30G>A XP_011541359.1:p.Gly10=
NM_005188.4:c.30G>A MANE Select NP_005179.2:p.Gly10=