Canonical Allele Identifier: CA16605078

Gene: TUBB

Linked Data

• ClinVar Variation Id: 392956
• ClinVar RCV Id: RCV000421687
• dbSNP Id: rs1057524718
• MyVariant Identifiers: chr6:g.30691521C>G (hg19) ; chr6:g.30723744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723744C>G , CM000668.2:g.30723744C>G	GRCh38
NC_000006.11:g.30691521C>G , CM000668.1:g.30691521C>G	GRCh37
NC_000006.10:g.30799500C>G	NCBI36
NG_034142.1:g.8544C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.682C>G MANE Select	ENSP00000339001.7:p.Leu228Val
ENST00000680530.1:n.1544C>G
ENST00000681421.1:n.1748C>G
ENST00000681435.1:c.466C>G	ENSP00000506665.1:p.Leu156Val
ENST00000327892.12:c.682C>G	ENSP00000339001.7:p.Leu228Val
ENST00000330914.7:c.466C>G	ENSP00000365578.2:p.Leu156Val
ENST00000396384.1:c.466C>G	ENSP00000379668.1:p.Leu156Val
ENST00000396389.5:c.628C>G	ENSP00000379672.1:p.Leu210Val
NM_001293212.1:c.742C>G	NP_001280141.1:p.Leu248Val
NM_001293213.1:c.370-294C>G	NP_001280142.1:n.370-294C>G
NM_001293214.1:c.550C>G	NP_001280143.1:p.Leu184Val
NM_001293215.1:c.466C>G	NP_001280144.1:p.Leu156Val
NM_001293216.1:c.466C>G	NP_001280145.1:p.Leu156Val
NM_178014.3:c.682C>G	NP_821133.1:p.Leu228Val
NR_120608.1:n.584-195C>G
NM_178014.4:c.682C>G MANE Select	NP_821133.1:p.Leu228Val
NM_001293212.2:c.742C>G	NP_001280141.1:p.Leu248Val
NM_001293213.2:c.370-294C>G	NP_001280142.1:n.370-294C>G
NM_001293214.2:c.550C>G	NP_001280143.1:p.Leu184Val
NM_001293215.2:c.466C>G	NP_001280144.1:p.Leu156Val
NM_001293216.2:c.466C>G	NP_001280145.1:p.Leu156Val
NR_120608.2:n.433-195C>G