Canonical Allele Identifier: CA382912065

Gene: CBL

Linked Data

• dbSNP Id: rs1206278540
• gnomAD v2: 11-119148541-T-A
• gnomAD v4: 11-119277831-T-A
• MyVariant Identifiers: chr11:g.119148541T>A (hg19) ; chr11:g.119277831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277831T>A , CM000673.2:g.119277831T>A	GRCh38
NC_000011.9:g.119148541T>A , CM000673.1:g.119148541T>A	GRCh37
NC_000011.8:g.118653751T>A	NCBI36
NG_016808.1:g.76552T>A , LRG_608:g.76552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*534T>A	ENSP00000515005.1:n.*534T>A
ENST00000264033.6:c.1082T>A MANE Select	ENSP00000264033.3:p.Ile361Asn
ENST00000637974.1:c.1076T>A	ENSP00000490763.1:p.Ile359Asn
ENST00000264033.5:c.1082T>A	ENSP00000264033.3:p.Ile361Asn
ENST00000634586.1:c.1082T>A	ENSP00000489218.1:p.Ile361Asn
ENST00000634840.1:c.1082T>A	ENSP00000489324.1:p.Ile361Asn
NM_005188.3:c.1082T>A , LRG_608t1:c.1082T>A	NP_005179.2:p.Ile361Asn
XM_011543057.1:c.1082T>A	XP_011541359.1:p.Ile361Asn
NM_005188.4:c.1082T>A MANE Select	NP_005179.2:p.Ile361Asn