Canonical Allele Identifier: CA382912558

Gene: CBL

Linked Data

• ClinVar Variation Id: 2761507
• ClinVar RCV Id: RCV003540368
• dbSNP Id: rs2135303727
• MyVariant Identifiers: chr11:g.119148933G>A (hg19) ; chr11:g.119278223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278223G>A , CM000673.2:g.119278223G>A	GRCh38
NC_000011.9:g.119148933G>A , CM000673.1:g.119148933G>A	GRCh37
NC_000011.8:g.118654143G>A	NCBI36
NG_016808.1:g.76944G>A , LRG_608:g.76944G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*605G>A	ENSP00000515005.1:n.*605G>A
ENST00000264033.6:c.1153G>A MANE Select	ENSP00000264033.3:p.Ala385Thr
ENST00000637974.1:c.1147G>A	ENSP00000490763.1:p.Ala383Thr
ENST00000264033.5:c.1153G>A	ENSP00000264033.3:p.Ala385Thr
ENST00000634586.1:c.1153G>A	ENSP00000489218.1:p.Ala385Thr
ENST00000634840.1:c.1153G>A	ENSP00000489324.1:p.Ala385Thr
NM_005188.3:c.1153G>A , LRG_608t1:c.1153G>A	NP_005179.2:p.Ala385Thr
XM_011543057.1:c.1153G>A	XP_011541359.1:p.Ala385Thr
NM_005188.4:c.1153G>A MANE Select	NP_005179.2:p.Ala385Thr