Canonical Allele Identifier: CA375817667
Gene: TUBB8 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47679G>T , CM000672.2:g.47679G>T GRCh38
NC_000010.10:g.93619G>T , CM000672.1:g.93619G>T GRCh37
NC_000010.9:g.83619G>T NCBI36
NG_046777.1:g.33777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000568584.6:c.713C>A MANE Select ENSP00000456206.2:p.Thr238Lys
ENST00000561967.1:c.*376C>A ENSP00000454878.1:n.*376C>A
ENST00000562809.1:c.*376C>A ENSP00000456899.1:n.*376C>A
ENST00000564130.2:c.611C>A ENSP00000457610.1:p.Thr204Lys
ENST00000567466.1:c.*557C>A ENSP00000454914.1:n.*557C>A
ENST00000568584.5:c.713C>A ENSP00000456206.1:p.Thr238Lys
ENST00000568866.5:c.602C>A ENSP00000457062.1:p.Thr201Lys
NM_177987.2:c.713C>A NP_817124.1:p.Thr238Lys
XM_011519458.1:c.497C>A XP_011517760.1:p.Thr166Lys
XM_011519459.1:c.497C>A XP_011517761.1:p.Thr166Lys
XM_011519460.1:c.254C>A XP_011517762.1:p.Thr85Lys
XM_011519459.3:c.497C>A XP_011517761.1:p.Thr166Lys
XM_011519460.2:c.254C>A XP_011517762.1:p.Thr85Lys
XM_017016192.2:c.377C>A XP_016871681.1:p.Thr126Lys
XM_017016193.2:c.377C>A XP_016871682.1:p.Thr126Lys
NM_177987.3:c.713C>A MANE Select NP_817124.1:p.Thr238Lys
NM_001389618.1:c.497C>A NP_001376547.1:p.Thr166Lys
NM_001389619.1:c.497C>A NP_001376548.1:p.Thr166Lys