Canonical Allele Identifier: CA382913746

Gene: CBL

Linked Data

• dbSNP Id: rs756530482
• gnomAD v4: 11-119278525-G-T
• MyVariant Identifiers: chr11:g.119149235G>T (hg19) ; chr11:g.119278525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278525G>T , CM000673.2:g.119278525G>T	GRCh38
NC_000011.9:g.119149235G>T , CM000673.1:g.119149235G>T	GRCh37
NC_000011.8:g.118654445G>T	NCBI36
NG_016808.1:g.77246G>T , LRG_608:g.77246G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*695G>T	ENSP00000515005.1:n.*695G>T
ENST00000264033.6:c.1243G>T MANE Select	ENSP00000264033.3:p.Gly415Cys
ENST00000637974.1:c.1237G>T	ENSP00000490763.1:p.Gly413Cys
ENST00000264033.5:c.1243G>T	ENSP00000264033.3:p.Gly415Cys
ENST00000634586.1:c.1243G>T	ENSP00000489218.1:p.Gly415Cys
ENST00000634840.1:c.1243G>T	ENSP00000489324.1:p.Gly415Cys
NM_005188.3:c.1243G>T , LRG_608t1:c.1243G>T	NP_005179.2:p.Gly415Cys
XM_011543057.1:c.1243G>T	XP_011541359.1:p.Gly415Cys
NM_005188.4:c.1243G>T MANE Select	NP_005179.2:p.Gly415Cys