Canonical Allele Identifier: CA375816981
Gene: TUBB8 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

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