Canonical Allele Identifier: CA602578964

Gene: CBL

Linked Data

• dbSNP Id: rs1342173092
• gnomAD v2: 11-119149176-G-A
• gnomAD v4: 11-119278466-G-A
• MyVariant Identifiers: chr11:g.119149176G>A (hg19) ; chr11:g.119278466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278466G>A , CM000673.2:g.119278466G>A	GRCh38
NC_000011.9:g.119149176G>A , CM000673.1:g.119149176G>A	GRCh37
NC_000011.8:g.118654386G>A	NCBI36
NG_016808.1:g.77187G>A , LRG_608:g.77187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-44G>A	ENSP00000515005.1:n.*680-44G>A
ENST00000264033.6:c.1228-44G>A MANE Select	ENSP00000264033.3:n.1228-44G>A
ENST00000637974.1:c.1222-44G>A	ENSP00000490763.1:n.1222-44G>A
ENST00000264033.5:c.1228-44G>A	ENSP00000264033.3:n.1228-44G>A
ENST00000634586.1:c.1228-44G>A	ENSP00000489218.1:n.1228-44G>A
ENST00000634840.1:c.1228-44G>A	ENSP00000489324.1:n.1228-44G>A
NM_005188.3:c.1228-44G>A , LRG_608t1:c.1228-44G>A	NP_005179.2:n.1228-44G>A
XM_011543057.1:c.1228-44G>A	XP_011541359.1:n.1228-44G>A
NM_005188.4:c.1228-44G>A MANE Select	NP_005179.2:n.1228-44G>A