Canonical Allele Identifier: CA3703589

Gene: TUBB

Linked Data

• ClinVar Variation Id: 382889
• ClinVar RCV Id: RCV001712375
• dbSNP Id: rs760014512
• ExAC: 6:30692148 G / A
• gnomAD v2: 6-30692148-G-A
• gnomAD v3: 6-30724371-G-A
• gnomAD v4: 6-30724371-G-A
• MyVariant Identifiers: chr6:g.30692148G>A (hg19) ; chr6:g.30724371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724371G>A , CM000668.2:g.30724371G>A	GRCh38
NC_000006.11:g.30692148G>A , CM000668.1:g.30692148G>A	GRCh37
NC_000006.10:g.30800127G>A	NCBI36
NG_034142.1:g.9171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.1309G>A MANE Select	ENSP00000339001.7:p.Gly437Ser
ENST00000680530.1:n.2171G>A
ENST00000681421.1:n.2375G>A
ENST00000681435.1:c.1093G>A	ENSP00000506665.1:p.Gly365Ser
ENST00000327892.12:c.1309G>A	ENSP00000339001.7:p.Gly437Ser
ENST00000330914.7:c.1093G>A	ENSP00000365578.2:p.Gly365Ser
ENST00000396384.1:c.1093G>A	ENSP00000379668.1:p.Gly365Ser
ENST00000396389.5:c.1255G>A	ENSP00000379672.1:p.Gly419Ser
NM_001293212.1:c.1369G>A	NP_001280141.1:p.Gly457Ser
NM_001293213.1:c.703G>A	NP_001280142.1:p.Gly235Ser
NM_001293214.1:c.1177G>A	NP_001280143.1:p.Gly393Ser
NM_001293215.1:c.1093G>A	NP_001280144.1:p.Gly365Ser
NM_001293216.1:c.1093G>A	NP_001280145.1:p.Gly365Ser
NM_178014.3:c.1309G>A	NP_821133.1:p.Gly437Ser
NR_120608.1:n.1016G>A
NM_178014.4:c.1309G>A MANE Select	NP_821133.1:p.Gly437Ser
NM_001293212.2:c.1369G>A	NP_001280141.1:p.Gly457Ser
NM_001293213.2:c.703G>A	NP_001280142.1:p.Gly235Ser
NM_001293214.2:c.1177G>A	NP_001280143.1:p.Gly393Ser
NM_001293215.2:c.1093G>A	NP_001280144.1:p.Gly365Ser
NM_001293216.2:c.1093G>A	NP_001280145.1:p.Gly365Ser
NR_120608.2:n.865G>A