Canonical Allele Identifier: CA354175
Gene: TUBB8 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47492C>T , CM000672.2:g.47492C>T GRCh38
NC_000010.10:g.93432C>T , CM000672.1:g.93432C>T GRCh37
NC_000010.9:g.83432C>T NCBI36
NG_046777.1:g.33964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000568584.6:c.900G>A MANE Select ENSP00000456206.2:p.Met300Ile
ENST00000561967.1:c.*563G>A ENSP00000454878.1:n.*563G>A
ENST00000564130.2:c.798G>A ENSP00000457610.1:p.Met266Ile
ENST00000568584.5:c.900G>A ENSP00000456206.1:p.Met300Ile
ENST00000568866.5:c.789G>A ENSP00000457062.1:p.Met263Ile
NM_177987.2:c.900G>A NP_817124.1:p.Met300Ile
XM_011519458.1:c.684G>A XP_011517760.1:p.Met228Ile
XM_011519459.1:c.684G>A XP_011517761.1:p.Met228Ile
XM_011519460.1:c.441G>A XP_011517762.1:p.Met147Ile
XM_011519459.3:c.684G>A XP_011517761.1:p.Met228Ile
XM_011519460.2:c.441G>A XP_011517762.1:p.Met147Ile
XM_017016192.2:c.564G>A XP_016871681.1:p.Met188Ile
XM_017016193.2:c.564G>A XP_016871682.1:p.Met188Ile
NM_177987.3:c.900G>A MANE Select NP_817124.1:p.Met300Ile
NM_001389618.1:c.684G>A NP_001376547.1:p.Met228Ile
NM_001389619.1:c.684G>A NP_001376548.1:p.Met228Ile