Canonical Allele Identifier: CA382912424

Gene: CBL

Linked Data

• ClinVar Variation Id: 2587221
• ClinVar RCV Id: RCV003350626
• dbSNP Id: rs2135303634
• MyVariant Identifiers: chr11:g.119148912T>C (hg19) ; chr11:g.119278202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278202T>C , CM000673.2:g.119278202T>C	GRCh38
NC_000011.9:g.119148912T>C , CM000673.1:g.119148912T>C	GRCh37
NC_000011.8:g.118654122T>C	NCBI36
NG_016808.1:g.76923T>C , LRG_608:g.76923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*584T>C	ENSP00000515005.1:n.*584T>C
ENST00000264033.6:c.1132T>C MANE Select	ENSP00000264033.3:p.Phe378Leu
ENST00000637974.1:c.1126T>C	ENSP00000490763.1:p.Phe376Leu
ENST00000264033.5:c.1132T>C	ENSP00000264033.3:p.Phe378Leu
ENST00000634586.1:c.1132T>C	ENSP00000489218.1:p.Phe378Leu
ENST00000634840.1:c.1132T>C	ENSP00000489324.1:p.Phe378Leu
NM_005188.3:c.1132T>C , LRG_608t1:c.1132T>C	NP_005179.2:p.Phe378Leu
XM_011543057.1:c.1132T>C	XP_011541359.1:p.Phe378Leu
NM_005188.4:c.1132T>C MANE Select	NP_005179.2:p.Phe378Leu