Canonical Allele Identifier: CA382976326
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs1222476725

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206549C>A , CM000673.2:g.119206549C>A GRCh38
NC_000011.9:g.119077259C>A , CM000673.1:g.119077259C>A GRCh37
NC_000011.8:g.118582469C>A NCBI36
NG_016808.1:g.5270C>A , LRG_608:g.5270C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.132C>A ENSP00000515005.1:p.Ser44Arg
ENST00000264033.6:c.132C>A MANE Select ENSP00000264033.3:p.Ser44Arg
ENST00000637974.1:c.126C>A ENSP00000490763.1:p.Ser42Arg
ENST00000264033.5:c.132C>A ENSP00000264033.3:p.Ser44Arg
ENST00000634586.1:c.132C>A ENSP00000489218.1:p.Ser44Arg
ENST00000634840.1:c.132C>A ENSP00000489324.1:p.Ser44Arg
NM_005188.3:c.132C>A , LRG_608t1:c.132C>A NP_005179.2:p.Ser44Arg
XM_011543057.1:c.132C>A XP_011541359.1:p.Ser44Arg
NM_005188.4:c.132C>A MANE Select NP_005179.2:p.Ser44Arg