Canonical Allele Identifier: CA382912520

Gene: CBL

Linked Data

• dbSNP Id: rs1265704711
• gnomAD v2: 11-119148927-A-G
• gnomAD v3: 11-119278217-A-G
• gnomAD v4: 11-119278217-A-G
• MyVariant Identifiers: chr11:g.119148927A>G (hg19) ; chr11:g.119278217A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278217A>G , CM000673.2:g.119278217A>G	GRCh38
NC_000011.9:g.119148927A>G , CM000673.1:g.119148927A>G	GRCh37
NC_000011.8:g.118654137A>G	NCBI36
NG_016808.1:g.76938A>G , LRG_608:g.76938A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*599A>G	ENSP00000515005.1:n.*599A>G
ENST00000264033.6:c.1147A>G MANE Select	ENSP00000264033.3:p.Ile383Val
ENST00000637974.1:c.1141A>G	ENSP00000490763.1:p.Ile381Val
ENST00000264033.5:c.1147A>G	ENSP00000264033.3:p.Ile383Val
ENST00000634586.1:c.1147A>G	ENSP00000489218.1:p.Ile383Val
ENST00000634840.1:c.1147A>G	ENSP00000489324.1:p.Ile383Val
NM_005188.3:c.1147A>G , LRG_608t1:c.1147A>G	NP_005179.2:p.Ile383Val
XM_011543057.1:c.1147A>G	XP_011541359.1:p.Ile383Val
NM_005188.4:c.1147A>G MANE Select	NP_005179.2:p.Ile383Val