Canonical Allele Identifier: CA363148830

Gene: TUBB

Linked Data

• ClinVar Variation Id: 498257
• ClinVar RCV Id: RCV000591909
• dbSNP Id: rs1554202407
• MyVariant Identifiers: chr6:g.30691684G>A (hg19) ; chr6:g.30723907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723907G>A , CM000668.2:g.30723907G>A	GRCh38
NC_000006.11:g.30691684G>A , CM000668.1:g.30691684G>A	GRCh37
NC_000006.10:g.30799663G>A	NCBI36
NG_034142.1:g.8707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.845G>A MANE Select	ENSP00000339001.7:p.Arg282Gln
ENST00000680530.1:n.1707G>A
ENST00000681421.1:n.1911G>A
ENST00000681435.1:c.629G>A	ENSP00000506665.1:p.Arg210Gln
ENST00000327892.12:c.845G>A	ENSP00000339001.7:p.Arg282Gln
ENST00000330914.7:c.629G>A	ENSP00000365578.2:p.Arg210Gln
ENST00000396384.1:c.629G>A	ENSP00000379668.1:p.Arg210Gln
ENST00000396389.5:c.791G>A	ENSP00000379672.1:p.Arg264Gln
NM_001293212.1:c.905G>A	NP_001280141.1:p.Arg302Gln
NM_001293213.1:c.370-131G>A	NP_001280142.1:n.370-131G>A
NM_001293214.1:c.713G>A	NP_001280143.1:p.Arg238Gln
NM_001293215.1:c.629G>A	NP_001280144.1:p.Arg210Gln
NM_001293216.1:c.629G>A	NP_001280145.1:p.Arg210Gln
NM_178014.3:c.845G>A	NP_821133.1:p.Arg282Gln
NR_120608.1:n.584-32G>A
NM_178014.4:c.845G>A MANE Select	NP_821133.1:p.Arg282Gln
NM_001293212.2:c.905G>A	NP_001280141.1:p.Arg302Gln
NM_001293213.2:c.370-131G>A	NP_001280142.1:n.370-131G>A
NM_001293214.2:c.713G>A	NP_001280143.1:p.Arg238Gln
NM_001293215.2:c.629G>A	NP_001280144.1:p.Arg210Gln
NM_001293216.2:c.629G>A	NP_001280145.1:p.Arg210Gln
NR_120608.2:n.433-32G>A