Canonical Allele Identifier: CA382911901
Gene: CBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119148498C>A (hg19) chr11:g.119277788C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277788C>A , CM000673.2:g.119277788C>A GRCh38
NC_000011.9:g.119148498C>A , CM000673.1:g.119148498C>A GRCh37
NC_000011.8:g.118653708C>A NCBI36
NG_016808.1:g.76509C>A , LRG_608:g.76509C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*491C>A ENSP00000515005.1:n.*491C>A
ENST00000264033.6:c.1039C>A MANE Select ENSP00000264033.3:p.Pro347Thr
ENST00000637974.1:c.1033C>A ENSP00000490763.1:p.Pro345Thr
ENST00000264033.5:c.1039C>A ENSP00000264033.3:p.Pro347Thr
ENST00000634586.1:c.1039C>A ENSP00000489218.1:p.Pro347Thr
ENST00000634840.1:c.1039C>A ENSP00000489324.1:p.Pro347Thr
NM_005188.3:c.1039C>A , LRG_608t1:c.1039C>A NP_005179.2:p.Pro347Thr
XM_011543057.1:c.1039C>A XP_011541359.1:p.Pro347Thr
NM_005188.4:c.1039C>A MANE Select NP_005179.2:p.Pro347Thr
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