Canonical Allele Identifier: CA382976318

Gene: CBL

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206547A>T , CM000673.2:g.119206547A>T	GRCh38
NC_000011.9:g.119077257A>T , CM000673.1:g.119077257A>T	GRCh37
NC_000011.8:g.118582467A>T	NCBI36
NG_016808.1:g.5268A>T , LRG_608:g.5268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.130A>T	ENSP00000515005.1:p.Ser44Cys
ENST00000264033.6:c.130A>T MANE Select	ENSP00000264033.3:p.Ser44Cys
ENST00000637974.1:c.124A>T	ENSP00000490763.1:p.Ser42Cys
ENST00000264033.5:c.130A>T	ENSP00000264033.3:p.Ser44Cys
ENST00000634586.1:c.130A>T	ENSP00000489218.1:p.Ser44Cys
ENST00000634840.1:c.130A>T	ENSP00000489324.1:p.Ser44Cys
NM_005188.3:c.130A>T , LRG_608t1:c.130A>T	NP_005179.2:p.Ser44Cys
XM_011543057.1:c.130A>T	XP_011541359.1:p.Ser44Cys
NM_005188.4:c.130A>T MANE Select	NP_005179.2:p.Ser44Cys