Canonical Allele Identifier: CA382913875

Gene: CBL

Linked Data

• dbSNP Id: rs2135304479
• MyVariant Identifiers: chr11:g.119149256G>C (hg19) ; chr11:g.119278546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278546G>C , CM000673.2:g.119278546G>C	GRCh38
NC_000011.9:g.119149256G>C , CM000673.1:g.119149256G>C	GRCh37
NC_000011.8:g.118654466G>C	NCBI36
NG_016808.1:g.77267G>C , LRG_608:g.77267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*716G>C	ENSP00000515005.1:n.*716G>C
ENST00000264033.6:c.1264G>C MANE Select	ENSP00000264033.3:p.Glu422Gln
ENST00000637974.1:c.1258G>C	ENSP00000490763.1:p.Glu420Gln
ENST00000264033.5:c.1264G>C	ENSP00000264033.3:p.Glu422Gln
ENST00000634586.1:c.1264G>C	ENSP00000489218.1:p.Glu422Gln
ENST00000634840.1:c.1264G>C	ENSP00000489324.1:p.Glu422Gln
NM_005188.3:c.1264G>C , LRG_608t1:c.1264G>C	NP_005179.2:p.Glu422Gln
XM_011543057.1:c.1264G>C	XP_011541359.1:p.Glu422Gln
NM_005188.4:c.1264G>C MANE Select	NP_005179.2:p.Glu422Gln