Canonical Allele Identifier: CA391685325
Gene: BUB1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40477835G>C (hg19) chr15:g.40185634G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40185634G>C , CM000677.2:g.40185634G>C GRCh38
NC_000015.9:g.40477835G>C , CM000677.1:g.40477835G>C GRCh37
NC_000015.8:g.38265127G>C NCBI36
NG_016338.1:g.29626G>C , LRG_489:g.29626G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287598.11:c.1050G>C MANE Select ENSP00000287598.7:p.Gln350His
ENST00000287598.10:c.1050G>C ENSP00000287598.6:p.Gln350His
ENST00000412359.7:c.1092G>C ENSP00000398470.3:p.Gln364His
ENST00000557848.1:n.309G>C
ENST00000559733.5:c.170+1751G>C
ENST00000559772.1:n.163G>C
NM_001211.5:c.1050G>C , LRG_489t1:c.1050G>C NP_001202.4:p.Gln350His
XR_001751506.1:n.218-5433C>G
NM_001211.6:c.1050G>C MANE Select NP_001202.5:p.Gln350His
Search 100 bp 5'
Search 100 bp 3'