Canonical Allele Identifier: CA2003887261

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119297497G>A , CM000673.2:g.119297497G>A	GRCh38
NC_000011.9:g.119168207G>A , CM000673.1:g.119168207G>A	GRCh37
NC_000011.8:g.118673417G>A	NCBI36
NG_016808.1:g.96218G>A , LRG_608:g.96218G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005188.4:c.2251+16G>A MANE Select	NP_005179.2:n.2251+16G>A
ENST00000264033.6:c.2251+16G>A MANE Select	ENSP00000264033.3:n.2251+16G>A
NM_005188.3:c.2251+16G>A , LRG_608t1:c.2251+16G>A	NP_005179.2:n.2251+16G>A
ENST00000264033.5:c.2251+16G>A	ENSP00000264033.3:n.2251+16G>A
ENST00000634586.1:c.2251+16G>A	ENSP00000489218.1:n.2251+16G>A
ENST00000634840.1:c.2119+16G>A	ENSP00000489324.1:n.2119+16G>A
ENST00000637974.1:c.2245+16G>A	ENSP00000490763.1:n.2245+16G>A
ENST00000700472.1:c.*1703+16G>A	ENSP00000515005.1:n.*1703+16G>A