Canonical Allele Identifier: CA282024

Gene: CBL

Linked Data

• ClinVar Variation Id: 40406
• ClinVar RCV Id: RCV000033354 ; RCV001041352 ; RCV002054537
• dbSNP Id: rs397507492
• MyVariant Identifiers: chr11:g.119148981T>C (hg19) ; chr11:g.119278271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278271T>C , CM000673.2:g.119278271T>C	GRCh38
NC_000011.9:g.119148981T>C , CM000673.1:g.119148981T>C	GRCh37
NC_000011.8:g.118654191T>C	NCBI36
NG_016808.1:g.76992T>C , LRG_608:g.76992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*653T>C	ENSP00000515005.1:n.*653T>C
ENST00000264033.6:c.1201T>C MANE Select	ENSP00000264033.3:p.Cys401Arg
ENST00000637974.1:c.1195T>C	ENSP00000490763.1:p.Cys399Arg
ENST00000264033.5:c.1201T>C	ENSP00000264033.3:p.Cys401Arg
ENST00000634586.1:c.1201T>C	ENSP00000489218.1:p.Cys401Arg
ENST00000634840.1:c.1201T>C	ENSP00000489324.1:p.Cys401Arg
NM_005188.3:c.1201T>C , LRG_608t1:c.1201T>C	NP_005179.2:p.Cys401Arg
XM_011543057.1:c.1201T>C	XP_011541359.1:p.Cys401Arg
NM_005188.4:c.1201T>C MANE Select	NP_005179.2:p.Cys401Arg