Canonical Allele Identifier: CA477135659
Gene: CBL HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119148929A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278219A>C , CM000673.2:g.119278219A>C GRCh38
NC_000011.9:g.119148929A>C , CM000673.1:g.119148929A>C GRCh37
NC_000011.8:g.118654139A>C NCBI36
NG_016808.1:g.76940A>C , LRG_608:g.76940A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*601A>C ENSP00000515005.1:n.*601A>C
ENST00000264033.6:c.1149A>C MANE Select ENSP00000264033.3:p.Ile383=
ENST00000637974.1:c.1143A>C ENSP00000490763.1:p.Ile381=
ENST00000264033.5:c.1149A>C ENSP00000264033.3:p.Ile383=
ENST00000634586.1:c.1149A>C ENSP00000489218.1:p.Ile383=
ENST00000634840.1:c.1149A>C ENSP00000489324.1:p.Ile383=
NM_005188.3:c.1149A>C , LRG_608t1:c.1149A>C NP_005179.2:p.Ile383=
XM_011543057.1:c.1149A>C XP_011541359.1:p.Ile383=
NM_005188.4:c.1149A>C MANE Select NP_005179.2:p.Ile383=
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