Canonical Allele Identifier: CA382913785
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs867564832

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278531C>A , CM000673.2:g.119278531C>A GRCh38
NC_000011.9:g.119149241C>A , CM000673.1:g.119149241C>A GRCh37
NC_000011.8:g.118654451C>A NCBI36
NG_016808.1:g.77252C>A , LRG_608:g.77252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*701C>A ENSP00000515005.1:n.*701C>A
ENST00000264033.6:c.1249C>A MANE Select ENSP00000264033.3:p.Pro417Thr
ENST00000637974.1:c.1243C>A ENSP00000490763.1:p.Pro415Thr
ENST00000264033.5:c.1249C>A ENSP00000264033.3:p.Pro417Thr
ENST00000634586.1:c.1249C>A ENSP00000489218.1:p.Pro417Thr
ENST00000634840.1:c.1249C>A ENSP00000489324.1:p.Pro417Thr
NM_005188.3:c.1249C>A , LRG_608t1:c.1249C>A NP_005179.2:p.Pro417Thr
XM_011543057.1:c.1249C>A XP_011541359.1:p.Pro417Thr
NM_005188.4:c.1249C>A MANE Select NP_005179.2:p.Pro417Thr