Canonical Allele Identifier: CA477134839

Gene: CBL

Linked Data

• ClinVar Variation Id: 2845531
• ClinVar RCV Id: RCV003655946
• MyVariant Identifiers: chr11:g.119148521A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277811A>G , CM000673.2:g.119277811A>G	GRCh38
NC_000011.9:g.119148521A>G , CM000673.1:g.119148521A>G	GRCh37
NC_000011.8:g.118653731A>G	NCBI36
NG_016808.1:g.76532A>G , LRG_608:g.76532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*514A>G	ENSP00000515005.1:n.*514A>G
ENST00000264033.6:c.1062A>G MANE Select	ENSP00000264033.3:p.Glu354=
ENST00000637974.1:c.1056A>G	ENSP00000490763.1:p.Glu352=
ENST00000264033.5:c.1062A>G	ENSP00000264033.3:p.Glu354=
ENST00000634586.1:c.1062A>G	ENSP00000489218.1:p.Glu354=
ENST00000634840.1:c.1062A>G	ENSP00000489324.1:p.Glu354=
NM_005188.3:c.1062A>G , LRG_608t1:c.1062A>G	NP_005179.2:p.Glu354=
XM_011543057.1:c.1062A>G	XP_011541359.1:p.Glu354=
NM_005188.4:c.1062A>G MANE Select	NP_005179.2:p.Glu354=