Canonical Allele Identifier: CA2575013245

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277910T>C , CM000673.2:g.119277910T>C	GRCh38
NC_000011.9:g.119148620T>C , CM000673.1:g.119148620T>C	GRCh37
NC_000011.8:g.118653830T>C	NCBI36
NG_016808.1:g.76631T>C , LRG_608:g.76631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*547+66T>C	ENSP00000515005.1:n.*547+66T>C
ENST00000264033.6:c.1095+66T>C MANE Select	ENSP00000264033.3:n.1095+66T>C
ENST00000637974.1:c.1089+66T>C	ENSP00000490763.1:n.1089+66T>C
ENST00000264033.5:c.1095+66T>C	ENSP00000264033.3:n.1095+66T>C
ENST00000634586.1:c.1095+66T>C	ENSP00000489218.1:n.1095+66T>C
ENST00000634840.1:c.1095+66T>C	ENSP00000489324.1:n.1095+66T>C
NM_005188.3:c.1095+66T>C , LRG_608t1:c.1095+66T>C	NP_005179.2:n.1095+66T>C
XM_011543057.1:c.1095+66T>C	XP_011541359.1:n.1095+66T>C
NM_005188.4:c.1095+66T>C MANE Select	NP_005179.2:n.1095+66T>C