Canonical Allele Identifier: CA16042542
Gene: TUBB HGNC NCBI

Linked Data

ClinVar Variation Id: 373428
ClinVar RCV Id: RCV000414335
dbSNP Id: rs1057518412
MyVariant Identifiers: chr6:g.30691161G>A (hg19) chr6:g.30723384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30723384G>A , CM000668.2:g.30723384G>A GRCh38
NC_000006.11:g.30691161G>A , CM000668.1:g.30691161G>A GRCh37
NC_000006.10:g.30799140G>A NCBI36
NG_034142.1:g.8184G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327892.13:c.322G>A MANE Select ENSP00000339001.7:p.Glu108Lys
ENST00000680530.1:n.1184G>A
ENST00000681421.1:n.1388G>A
ENST00000681435.1:c.106G>A ENSP00000506665.1:p.Glu36Lys
ENST00000327892.12:c.322G>A ENSP00000339001.7:p.Glu108Lys
ENST00000330914.7:c.106G>A ENSP00000365578.2:p.Glu36Lys
ENST00000396384.1:c.106G>A ENSP00000379668.1:p.Glu36Lys
ENST00000396389.5:c.268G>A ENSP00000379672.1:p.Glu90Lys
NM_001293212.1:c.382G>A NP_001280141.1:p.Glu128Lys
NM_001293213.1:c.322G>A NP_001280142.1:p.Glu108Lys
NM_001293214.1:c.190G>A NP_001280143.1:p.Glu64Lys
NM_001293215.1:c.106G>A NP_001280144.1:p.Glu36Lys
NM_001293216.1:c.106G>A NP_001280145.1:p.Glu36Lys
NM_178014.3:c.322G>A NP_821133.1:p.Glu108Lys
NR_120608.1:n.583+356G>A
NM_178014.4:c.322G>A MANE Select NP_821133.1:p.Glu108Lys
NM_001293212.2:c.382G>A NP_001280141.1:p.Glu128Lys
NM_001293213.2:c.322G>A NP_001280142.1:p.Glu108Lys
NM_001293214.2:c.190G>A NP_001280143.1:p.Glu64Lys
NM_001293215.2:c.106G>A NP_001280144.1:p.Glu36Lys
NM_001293216.2:c.106G>A NP_001280145.1:p.Glu36Lys
NR_120608.2:n.432+356G>A
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