Canonical Allele Identifier: CA363151660

Gene: TUBB

Linked Data

• ClinVar Variation Id: 426178
• ClinVar RCV Id: RCV000489953
• dbSNP Id: rs1085307486
• MyVariant Identifiers: chr6:g.30692069G>T (hg19) ; chr6:g.30724292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724292G>T , CM000668.2:g.30724292G>T	GRCh38
NC_000006.11:g.30692069G>T , CM000668.1:g.30692069G>T	GRCh37
NC_000006.10:g.30800048G>T	NCBI36
NG_034142.1:g.9092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.1230G>T MANE Select	ENSP00000339001.7:p.Glu410Asp
ENST00000680530.1:n.2092G>T
ENST00000681421.1:n.2296G>T
ENST00000681435.1:c.1014G>T	ENSP00000506665.1:p.Glu338Asp
ENST00000327892.12:c.1230G>T	ENSP00000339001.7:p.Glu410Asp
ENST00000330914.7:c.1014G>T	ENSP00000365578.2:p.Glu338Asp
ENST00000396384.1:c.1014G>T	ENSP00000379668.1:p.Glu338Asp
ENST00000396389.5:c.1176G>T	ENSP00000379672.1:p.Glu392Asp
NM_001293212.1:c.1290G>T	NP_001280141.1:p.Glu430Asp
NM_001293213.1:c.624G>T	NP_001280142.1:p.Glu208Asp
NM_001293214.1:c.1098G>T	NP_001280143.1:p.Glu366Asp
NM_001293215.1:c.1014G>T	NP_001280144.1:p.Glu338Asp
NM_001293216.1:c.1014G>T	NP_001280145.1:p.Glu338Asp
NM_178014.3:c.1230G>T	NP_821133.1:p.Glu410Asp
NR_120608.1:n.937G>T
NM_178014.4:c.1230G>T MANE Select	NP_821133.1:p.Glu410Asp
NM_001293212.2:c.1290G>T	NP_001280141.1:p.Glu430Asp
NM_001293213.2:c.624G>T	NP_001280142.1:p.Glu208Asp
NM_001293214.2:c.1098G>T	NP_001280143.1:p.Glu366Asp
NM_001293215.2:c.1014G>T	NP_001280144.1:p.Glu338Asp
NM_001293216.2:c.1014G>T	NP_001280145.1:p.Glu338Asp
NR_120608.2:n.786G>T