Canonical Allele Identifier: CA6318485
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1327077
dbSNP Id: rs772156285

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278535T>C , CM000673.2:g.119278535T>C GRCh38
NC_000011.9:g.119149245T>C , CM000673.1:g.119149245T>C GRCh37
NC_000011.8:g.118654455T>C NCBI36
NG_016808.1:g.77256T>C , LRG_608:g.77256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*705T>C ENSP00000515005.1:n.*705T>C
ENST00000264033.6:c.1253T>C MANE Select ENSP00000264033.3:p.Phe418Ser
ENST00000637974.1:c.1247T>C ENSP00000490763.1:p.Phe416Ser
ENST00000264033.5:c.1253T>C ENSP00000264033.3:p.Phe418Ser
ENST00000634586.1:c.1253T>C ENSP00000489218.1:p.Phe418Ser
ENST00000634840.1:c.1253T>C ENSP00000489324.1:p.Phe418Ser
NM_005188.3:c.1253T>C , LRG_608t1:c.1253T>C NP_005179.2:p.Phe418Ser
XM_011543057.1:c.1253T>C XP_011541359.1:p.Phe418Ser
NM_005188.4:c.1253T>C MANE Select NP_005179.2:p.Phe418Ser