Canonical Allele Identifier: CA2575013254
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277939A>G , CM000673.2:g.119277939A>G GRCh38
NC_000011.9:g.119148649A>G , CM000673.1:g.119148649A>G GRCh37
NC_000011.8:g.118653859A>G NCBI36
NG_016808.1:g.76660A>G , LRG_608:g.76660A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*547+95A>G ENSP00000515005.1:n.*547+95A>G
ENST00000264033.6:c.1095+95A>G MANE Select ENSP00000264033.3:n.1095+95A>G
ENST00000637974.1:c.1089+95A>G ENSP00000490763.1:n.1089+95A>G
ENST00000264033.5:c.1095+95A>G ENSP00000264033.3:n.1095+95A>G
ENST00000634586.1:c.1095+95A>G ENSP00000489218.1:n.1095+95A>G
ENST00000634840.1:c.1095+95A>G ENSP00000489324.1:n.1095+95A>G
NM_005188.3:c.1095+95A>G , LRG_608t1:c.1095+95A>G NP_005179.2:n.1095+95A>G
XM_011543057.1:c.1095+95A>G XP_011541359.1:n.1095+95A>G
NM_005188.4:c.1095+95A>G MANE Select NP_005179.2:n.1095+95A>G