Canonical Allele Identifier: CA382911803
Gene: CBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277761T>G , CM000673.2:g.119277761T>G GRCh38
NC_000011.9:g.119148471T>G , CM000673.1:g.119148471T>G GRCh37
NC_000011.8:g.118653681T>G NCBI36
NG_016808.1:g.76482T>G , LRG_608:g.76482T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*464T>G ENSP00000515005.1:n.*464T>G
ENST00000264033.6:c.1012T>G MANE Select ENSP00000264033.3:p.Leu338Val
ENST00000637974.1:c.1006T>G ENSP00000490763.1:p.Leu336Val
ENST00000264033.5:c.1012T>G ENSP00000264033.3:p.Leu338Val
ENST00000634586.1:c.1012T>G ENSP00000489218.1:p.Leu338Val
ENST00000634840.1:c.1012T>G ENSP00000489324.1:p.Leu338Val
NM_005188.3:c.1012T>G , LRG_608t1:c.1012T>G NP_005179.2:p.Leu338Val
XM_011543057.1:c.1012T>G XP_011541359.1:p.Leu338Val
NM_005188.4:c.1012T>G MANE Select NP_005179.2:p.Leu338Val