Canonical Allele Identifier: CA136809413

Gene: TUBB

Linked Data

• ClinVar Variation Id: 545082
• ClinVar RCV Id: RCV000656301
• dbSNP Id: rs1059145
• MyVariant Identifiers: chr6:g.30691486A>G (hg19) ; chr6:g.30723709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723709A>G , CM000668.2:g.30723709A>G	GRCh38
NC_000006.11:g.30691486A>G , CM000668.1:g.30691486A>G	GRCh37
NC_000006.10:g.30799465A>G	NCBI36
NG_034142.1:g.8509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.647A>G MANE Select	ENSP00000339001.7:p.Lys216Arg
ENST00000680530.1:n.1509A>G
ENST00000681421.1:n.1713A>G
ENST00000681435.1:c.431A>G	ENSP00000506665.1:p.Lys144Arg
ENST00000327892.12:c.647A>G	ENSP00000339001.7:p.Lys216Arg
ENST00000330914.7:c.431A>G	ENSP00000365578.2:p.Lys144Arg
ENST00000396384.1:c.431A>G	ENSP00000379668.1:p.Lys144Arg
ENST00000396389.5:c.593A>G	ENSP00000379672.1:p.Lys198Arg
NM_001293212.1:c.707A>G	NP_001280141.1:p.Lys236Arg
NM_001293213.1:c.369+278A>G	NP_001280142.1:n.369+278A>G
NM_001293214.1:c.515A>G	NP_001280143.1:p.Lys172Arg
NM_001293215.1:c.431A>G	NP_001280144.1:p.Lys144Arg
NM_001293216.1:c.431A>G	NP_001280145.1:p.Lys144Arg
NM_178014.3:c.647A>G	NP_821133.1:p.Lys216Arg
NR_120608.1:n.584-230A>G
NM_178014.4:c.647A>G MANE Select	NP_821133.1:p.Lys216Arg
NM_001293212.2:c.707A>G	NP_001280141.1:p.Lys236Arg
NM_001293213.2:c.369+278A>G	NP_001280142.1:n.369+278A>G
NM_001293214.2:c.515A>G	NP_001280143.1:p.Lys172Arg
NM_001293215.2:c.431A>G	NP_001280144.1:p.Lys144Arg
NM_001293216.2:c.431A>G	NP_001280145.1:p.Lys144Arg
NR_120608.2:n.433-230A>G