Canonical Allele Identifier: CA391681598
Community Standard Title: NM_001211.6(BUB1B):c.580C>G (p.Arg194Gly)
Gene: BUB1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40176672C>G , CM000677.2:g.40176672C>G GRCh38
NC_000015.9:g.40468873C>G , CM000677.1:g.40468873C>G GRCh37
NC_000015.8:g.38256165C>G NCBI36
NG_016338.1:g.20664C>G , LRG_489:g.20664C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001211.6:c.580C>G MANE Select NP_001202.5:p.Arg194Gly
ENST00000287598.11:c.580C>G MANE Select ENSP00000287598.7:p.Arg194Gly
NM_001211.5:c.580C>G , LRG_489t1:c.580C>G NP_001202.4:p.Arg194Gly
ENST00000287598.10:c.580C>G ENSP00000287598.6:p.Arg194Gly
ENST00000412359.7:c.622C>G ENSP00000398470.3:p.Arg208Gly
XR_001751506.1:n.392-2188G>C
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