Canonical Allele Identifier: CA382911862
Gene: CBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277779A>C , CM000673.2:g.119277779A>C GRCh38
NC_000011.9:g.119148489A>C , CM000673.1:g.119148489A>C GRCh37
NC_000011.8:g.118653699A>C NCBI36
NG_016808.1:g.76500A>C , LRG_608:g.76500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*482A>C ENSP00000515005.1:n.*482A>C
ENST00000264033.6:c.1030A>C MANE Select ENSP00000264033.3:p.Asn344His
ENST00000637974.1:c.1024A>C ENSP00000490763.1:p.Asn342His
ENST00000264033.5:c.1030A>C ENSP00000264033.3:p.Asn344His
ENST00000634586.1:c.1030A>C ENSP00000489218.1:p.Asn344His
ENST00000634840.1:c.1030A>C ENSP00000489324.1:p.Asn344His
NM_005188.3:c.1030A>C , LRG_608t1:c.1030A>C NP_005179.2:p.Asn344His
XM_011543057.1:c.1030A>C XP_011541359.1:p.Asn344His
NM_005188.4:c.1030A>C MANE Select NP_005179.2:p.Asn344His