Canonical Allele Identifier: CA382912366

Gene: CBL

Linked Data

• ClinVar Variation Id: 2907231
• ClinVar RCV Id: RCV003654782
• dbSNP Id: rs1350371301
• gnomAD v2: 11-119148900-A-T
• gnomAD v4: 11-119278190-A-T
• MyVariant Identifiers: chr11:g.119148900A>T (hg19) ; chr11:g.119278190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278190A>T , CM000673.2:g.119278190A>T	GRCh38
NC_000011.9:g.119148900A>T , CM000673.1:g.119148900A>T	GRCh37
NC_000011.8:g.118654110A>T	NCBI36
NG_016808.1:g.76911A>T , LRG_608:g.76911A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*572A>T	ENSP00000515005.1:n.*572A>T
ENST00000264033.6:c.1120A>T MANE Select	ENSP00000264033.3:p.Met374Leu
ENST00000637974.1:c.1114A>T	ENSP00000490763.1:p.Met372Leu
ENST00000264033.5:c.1120A>T	ENSP00000264033.3:p.Met374Leu
ENST00000634586.1:c.1120A>T	ENSP00000489218.1:p.Met374Leu
ENST00000634840.1:c.1120A>T	ENSP00000489324.1:p.Met374Leu
NM_005188.3:c.1120A>T , LRG_608t1:c.1120A>T	NP_005179.2:p.Met374Leu
XM_011543057.1:c.1120A>T	XP_011541359.1:p.Met374Leu
NM_005188.4:c.1120A>T MANE Select	NP_005179.2:p.Met374Leu