Canonical Allele Identifier: CA477133496
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119298389C>T , CM000673.2:g.119298389C>T GRCh38
NC_000011.9:g.119169099C>T , CM000673.1:g.119169099C>T GRCh37
NC_000011.8:g.118674309C>T NCBI36
NG_016808.1:g.97110C>T , LRG_608:g.97110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*1735C>T ENSP00000515005.1:n.*1735C>T
ENST00000264033.6:c.2283C>T MANE Select ENSP00000264033.3:p.Asn761=
ENST00000637974.1:c.2277C>T ENSP00000490763.1:p.Asn759=
ENST00000264033.5:c.2283C>T ENSP00000264033.3:p.Asn761=
ENST00000634301.1:c.18C>T ENSP00000489556.1:p.Asn6=
ENST00000634586.1:c.2283C>T ENSP00000489218.1:p.Asn761=
ENST00000634840.1:c.2151C>T ENSP00000489324.1:p.Asn717=
NM_005188.3:c.2283C>T , LRG_608t1:c.2283C>T NP_005179.2:p.Asn761=
NM_005188.4:c.2283C>T MANE Select NP_005179.2:p.Asn761=