Canonical Allele Identifier: CA382912725

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278257G>C , CM000673.2:g.119278257G>C	GRCh38
NC_000011.9:g.119148967G>C , CM000673.1:g.119148967G>C	GRCh37
NC_000011.8:g.118654177G>C	NCBI36
NG_016808.1:g.76978G>C , LRG_608:g.76978G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005188.4:c.1187G>C MANE Select	NP_005179.2:p.Cys396Ser
ENST00000264033.6:c.1187G>C MANE Select	ENSP00000264033.3:p.Cys396Ser
NM_005188.3:c.1187G>C , LRG_608t1:c.1187G>C	NP_005179.2:p.Cys396Ser
ENST00000264033.5:c.1187G>C	ENSP00000264033.3:p.Cys396Ser
ENST00000634586.1:c.1187G>C	ENSP00000489218.1:p.Cys396Ser
ENST00000634840.1:c.1187G>C	ENSP00000489324.1:p.Cys396Ser
ENST00000637974.1:c.1181G>C	ENSP00000490763.1:p.Cys394Ser
ENST00000700472.1:c.*639G>C	ENSP00000515005.1:n.*639G>C
XM_011543057.1:c.1187G>C	XP_011541359.1:p.Cys396Ser