Canonical Allele Identifier: CA382912761

Gene: CBL

Linked Data

• ClinVar Variation Id: 1677605
• ClinVar RCV Id: RCV002224347
• dbSNP Id: rs2135303846
• gnomAD v4: 11-119278265-C-T
• MyVariant Identifiers: chr11:g.119148975C>T (hg19) ; chr11:g.119278265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278265C>T , CM000673.2:g.119278265C>T	GRCh38
NC_000011.9:g.119148975C>T , CM000673.1:g.119148975C>T	GRCh37
NC_000011.8:g.118654185C>T	NCBI36
NG_016808.1:g.76986C>T , LRG_608:g.76986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*647C>T	ENSP00000515005.1:n.*647C>T
ENST00000264033.6:c.1195C>T MANE Select	ENSP00000264033.3:p.Leu399Phe
ENST00000637974.1:c.1189C>T	ENSP00000490763.1:p.Leu397Phe
ENST00000264033.5:c.1195C>T	ENSP00000264033.3:p.Leu399Phe
ENST00000634586.1:c.1195C>T	ENSP00000489218.1:p.Leu399Phe
ENST00000634840.1:c.1195C>T	ENSP00000489324.1:p.Leu399Phe
NM_005188.3:c.1195C>T , LRG_608t1:c.1195C>T	NP_005179.2:p.Leu399Phe
XM_011543057.1:c.1195C>T	XP_011541359.1:p.Leu399Phe
NM_005188.4:c.1195C>T MANE Select	NP_005179.2:p.Leu399Phe