Canonical Allele Identifier: CA382911862

Gene: CBL

Linked Data

• MyVariant Identifiers: chr11:g.119148489A>C (hg19) ; chr11:g.119277779A>C (hg38)

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