Canonical Allele Identifier: CA382913659
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs2135304380

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278513T>C , CM000673.2:g.119278513T>C GRCh38
NC_000011.9:g.119149223T>C , CM000673.1:g.119149223T>C GRCh37
NC_000011.8:g.118654433T>C NCBI36
NG_016808.1:g.77234T>C , LRG_608:g.77234T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*683T>C ENSP00000515005.1:n.*683T>C
ENST00000264033.6:c.1231T>C MANE Select ENSP00000264033.3:p.Ser411Pro
ENST00000637974.1:c.1225T>C ENSP00000490763.1:p.Ser409Pro
ENST00000264033.5:c.1231T>C ENSP00000264033.3:p.Ser411Pro
ENST00000634586.1:c.1231T>C ENSP00000489218.1:p.Ser411Pro
ENST00000634840.1:c.1231T>C ENSP00000489324.1:p.Ser411Pro
NM_005188.3:c.1231T>C , LRG_608t1:c.1231T>C NP_005179.2:p.Ser411Pro
XM_011543057.1:c.1231T>C XP_011541359.1:p.Ser411Pro
NM_005188.4:c.1231T>C MANE Select NP_005179.2:p.Ser411Pro