Canonical Allele Identifier: CA382911892
Gene: CBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277785A>G , CM000673.2:g.119277785A>G GRCh38
NC_000011.9:g.119148495A>G , CM000673.1:g.119148495A>G GRCh37
NC_000011.8:g.118653705A>G NCBI36
NG_016808.1:g.76506A>G , LRG_608:g.76506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*488A>G ENSP00000515005.1:n.*488A>G
ENST00000264033.6:c.1036A>G MANE Select ENSP00000264033.3:p.Asn346Asp
ENST00000637974.1:c.1030A>G ENSP00000490763.1:p.Asn344Asp
ENST00000264033.5:c.1036A>G ENSP00000264033.3:p.Asn346Asp
ENST00000634586.1:c.1036A>G ENSP00000489218.1:p.Asn346Asp
ENST00000634840.1:c.1036A>G ENSP00000489324.1:p.Asn346Asp
NM_005188.3:c.1036A>G , LRG_608t1:c.1036A>G NP_005179.2:p.Asn346Asp
XM_011543057.1:c.1036A>G XP_011541359.1:p.Asn346Asp
NM_005188.4:c.1036A>G MANE Select NP_005179.2:p.Asn346Asp