Canonical Allele Identifier: CA6318344

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119274903G>A , CM000673.2:g.119274903G>A	GRCh38
NC_000011.9:g.119145613G>A , CM000673.1:g.119145613G>A	GRCh37
NC_000011.8:g.118650823G>A	NCBI36
NG_016808.1:g.73624G>A , LRG_608:g.73624G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005188.4:c.819G>A MANE Select	NP_005179.2:p.Thr273=
ENST00000264033.6:c.819G>A MANE Select	ENSP00000264033.3:p.Thr273=
NM_005188.3:c.819G>A , LRG_608t1:c.819G>A	NP_005179.2:p.Thr273=
ENST00000264033.5:c.819G>A	ENSP00000264033.3:p.Thr273=
ENST00000634586.1:c.819G>A	ENSP00000489218.1:p.Thr273=
ENST00000634840.1:c.819G>A	ENSP00000489324.1:p.Thr273=
ENST00000637974.1:c.813G>A	ENSP00000490763.1:p.Thr271=
ENST00000700472.1:c.*271G>A	ENSP00000515005.1:n.*271G>A
XM_011543057.1:c.819G>A	XP_011541359.1:p.Thr273=