Canonical Allele Identifier: CA382912529
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2897261
ClinVar RCV Id: RCV003654680
COSMIC: COSM4384636
MyVariant Identifiers: chr11:g.119148928T>C (hg19) chr11:g.119278218T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278218T>C , CM000673.2:g.119278218T>C GRCh38
NC_000011.9:g.119148928T>C , CM000673.1:g.119148928T>C GRCh37
NC_000011.8:g.118654138T>C NCBI36
NG_016808.1:g.76939T>C , LRG_608:g.76939T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*600T>C ENSP00000515005.1:n.*600T>C
ENST00000264033.6:c.1148T>C MANE Select ENSP00000264033.3:p.Ile383Thr
ENST00000637974.1:c.1142T>C ENSP00000490763.1:p.Ile381Thr
ENST00000264033.5:c.1148T>C ENSP00000264033.3:p.Ile383Thr
ENST00000634586.1:c.1148T>C ENSP00000489218.1:p.Ile383Thr
ENST00000634840.1:c.1148T>C ENSP00000489324.1:p.Ile383Thr
NM_005188.3:c.1148T>C , LRG_608t1:c.1148T>C NP_005179.2:p.Ile383Thr
XM_011543057.1:c.1148T>C XP_011541359.1:p.Ile383Thr
NM_005188.4:c.1148T>C MANE Select NP_005179.2:p.Ile383Thr
Search 100 bp 5'
Search 100 bp 3'