Canonical Allele Identifier: CA6318417

Gene: CBL

Linked Data

• ClinVar Variation Id: 1994768
• ClinVar RCV Id: RCV002819132
• dbSNP Id: rs753498708
• ExAC: 11:119148540 A / G
• gnomAD v4: 11-119277830-A-G
• MyVariant Identifiers: chr11:g.119148540A>G (hg19) ; chr11:g.119277830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277830A>G , CM000673.2:g.119277830A>G	GRCh38
NC_000011.9:g.119148540A>G , CM000673.1:g.119148540A>G	GRCh37
NC_000011.8:g.118653750A>G	NCBI36
NG_016808.1:g.76551A>G , LRG_608:g.76551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*533A>G	ENSP00000515005.1:n.*533A>G
ENST00000264033.6:c.1081A>G MANE Select	ENSP00000264033.3:p.Ile361Val
ENST00000637974.1:c.1075A>G	ENSP00000490763.1:p.Ile359Val
ENST00000264033.5:c.1081A>G	ENSP00000264033.3:p.Ile361Val
ENST00000634586.1:c.1081A>G	ENSP00000489218.1:p.Ile361Val
ENST00000634840.1:c.1081A>G	ENSP00000489324.1:p.Ile361Val
NM_005188.3:c.1081A>G , LRG_608t1:c.1081A>G	NP_005179.2:p.Ile361Val
XM_011543057.1:c.1081A>G	XP_011541359.1:p.Ile361Val
NM_005188.4:c.1081A>G MANE Select	NP_005179.2:p.Ile361Val