Canonical Allele Identifier: CA382912560

Gene: CBL

Linked Data

• dbSNP Id: rs2135303727
• gnomAD v4: 11-119278223-G-C
• MyVariant Identifiers: chr11:g.119148933G>C (hg19) ; chr11:g.119278223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278223G>C , CM000673.2:g.119278223G>C	GRCh38
NC_000011.9:g.119148933G>C , CM000673.1:g.119148933G>C	GRCh37
NC_000011.8:g.118654143G>C	NCBI36
NG_016808.1:g.76944G>C , LRG_608:g.76944G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*605G>C	ENSP00000515005.1:n.*605G>C
ENST00000264033.6:c.1153G>C MANE Select	ENSP00000264033.3:p.Ala385Pro
ENST00000637974.1:c.1147G>C	ENSP00000490763.1:p.Ala383Pro
ENST00000264033.5:c.1153G>C	ENSP00000264033.3:p.Ala385Pro
ENST00000634586.1:c.1153G>C	ENSP00000489218.1:p.Ala385Pro
ENST00000634840.1:c.1153G>C	ENSP00000489324.1:p.Ala385Pro
NM_005188.3:c.1153G>C , LRG_608t1:c.1153G>C	NP_005179.2:p.Ala385Pro
XM_011543057.1:c.1153G>C	XP_011541359.1:p.Ala385Pro
NM_005188.4:c.1153G>C MANE Select	NP_005179.2:p.Ala385Pro