Canonical Allele Identifier: CA1828393
Gene: BUB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110672804C>A , CM000664.2:g.110672804C>A GRCh38
NC_000002.11:g.111430381C>A , CM000664.1:g.111430381C>A GRCh37
NC_000002.10:g.111146852C>A NCBI36
NG_012048.1:g.10304G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302759.11:c.279G>T MANE Select ENSP00000302530.6:p.Gly93=
ENST00000535254.6:c.219G>T ENSP00000441013.1:p.Gly73=
ENST00000666956.1:c.252G>T ENSP00000499728.1:p.Gly84=
ENST00000302759.10:c.279G>T ENSP00000302530.6:p.Gly93=
ENST00000409311.5:c.279G>T ENSP00000386701.1:p.Gly93=
ENST00000420328.5:c.252G>T ENSP00000409713.1:p.Gly84=
ENST00000447014.5:c.252G>T ENSP00000402883.1:p.Gly84=
ENST00000465029.5:n.347G>T
ENST00000466333.5:n.312G>T
ENST00000535254.5:c.219G>T ENSP00000441013.1:p.Gly73=
NM_001278616.1:c.219G>T NP_001265545.1:p.Gly73=
NM_001278617.1:c.279G>T NP_001265546.1:p.Gly93=
NM_004336.4:c.279G>T NP_004327.1:p.Gly93=
XR_923001.1:n.378G>T
XR_923001.3:n.347G>T
NM_004336.5:c.279G>T MANE Select NP_004327.1:p.Gly93=
NM_001278616.2:c.219G>T NP_001265545.1:p.Gly73=
NM_001278617.2:c.279G>T NP_001265546.1:p.Gly93=