Canonical Allele Identifier: CA382912730

Gene: CBL

Linked Data

• dbSNP Id: rs1320607569
• gnomAD v2: 11-119148969-G-A
• gnomAD v4: 11-119278259-G-A
• MyVariant Identifiers: chr11:g.119148969G>A (hg19) ; chr11:g.119278259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278259G>A , CM000673.2:g.119278259G>A	GRCh38
NC_000011.9:g.119148969G>A , CM000673.1:g.119148969G>A	GRCh37
NC_000011.8:g.118654179G>A	NCBI36
NG_016808.1:g.76980G>A , LRG_608:g.76980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*641G>A	ENSP00000515005.1:n.*641G>A
ENST00000264033.6:c.1189G>A MANE Select	ENSP00000264033.3:p.Gly397Arg
ENST00000637974.1:c.1183G>A	ENSP00000490763.1:p.Gly395Arg
ENST00000264033.5:c.1189G>A	ENSP00000264033.3:p.Gly397Arg
ENST00000634586.1:c.1189G>A	ENSP00000489218.1:p.Gly397Arg
ENST00000634840.1:c.1189G>A	ENSP00000489324.1:p.Gly397Arg
NM_005188.3:c.1189G>A , LRG_608t1:c.1189G>A	NP_005179.2:p.Gly397Arg
XM_011543057.1:c.1189G>A	XP_011541359.1:p.Gly397Arg
NM_005188.4:c.1189G>A MANE Select	NP_005179.2:p.Gly397Arg