Canonical Allele Identifier: CA6318446
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs538190997
COSMIC: COSM41272

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278241G>A , CM000673.2:g.119278241G>A GRCh38
NC_000011.9:g.119148951G>A , CM000673.1:g.119148951G>A GRCh37
NC_000011.8:g.118654161G>A NCBI36
NG_016808.1:g.76962G>A , LRG_608:g.76962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*623G>A ENSP00000515005.1:n.*623G>A
ENST00000264033.6:c.1171G>A MANE Select ENSP00000264033.3:p.Val391Ile
ENST00000637974.1:c.1165G>A ENSP00000490763.1:p.Val389Ile
ENST00000264033.5:c.1171G>A ENSP00000264033.3:p.Val391Ile
ENST00000634586.1:c.1171G>A ENSP00000489218.1:p.Val391Ile
ENST00000634840.1:c.1171G>A ENSP00000489324.1:p.Val391Ile
NM_005188.3:c.1171G>A , LRG_608t1:c.1171G>A NP_005179.2:p.Val391Ile
XM_011543057.1:c.1171G>A XP_011541359.1:p.Val391Ile
NM_005188.4:c.1171G>A MANE Select NP_005179.2:p.Val391Ile