Canonical Allele Identifier: CA363149224

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723978-C-T
• MyVariant Identifiers: chr6:g.30691755C>T (hg19) ; chr6:g.30723978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723978C>T , CM000668.2:g.30723978C>T	GRCh38
NC_000006.11:g.30691755C>T , CM000668.1:g.30691755C>T	GRCh37
NC_000006.10:g.30799734C>T	NCBI36
NG_034142.1:g.8778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.916C>T MANE Select	ENSP00000339001.7:p.Arg306Cys
ENST00000680530.1:n.1778C>T
ENST00000681421.1:n.1982C>T
ENST00000681435.1:c.700C>T	ENSP00000506665.1:p.Arg234Cys
ENST00000327892.12:c.916C>T	ENSP00000339001.7:p.Arg306Cys
ENST00000330914.7:c.700C>T	ENSP00000365578.2:p.Arg234Cys
ENST00000396384.1:c.700C>T	ENSP00000379668.1:p.Arg234Cys
ENST00000396389.5:c.862C>T	ENSP00000379672.1:p.Arg288Cys
NM_001293212.1:c.976C>T	NP_001280141.1:p.Arg326Cys
NM_001293213.1:c.370-60C>T	NP_001280142.1:n.370-60C>T
NM_001293214.1:c.784C>T	NP_001280143.1:p.Arg262Cys
NM_001293215.1:c.700C>T	NP_001280144.1:p.Arg234Cys
NM_001293216.1:c.700C>T	NP_001280145.1:p.Arg234Cys
NM_178014.3:c.916C>T	NP_821133.1:p.Arg306Cys
NR_120608.1:n.623C>T
NM_178014.4:c.916C>T MANE Select	NP_821133.1:p.Arg306Cys
NM_001293212.2:c.976C>T	NP_001280141.1:p.Arg326Cys
NM_001293213.2:c.370-60C>T	NP_001280142.1:n.370-60C>T
NM_001293214.2:c.784C>T	NP_001280143.1:p.Arg262Cys
NM_001293215.2:c.700C>T	NP_001280144.1:p.Arg234Cys
NM_001293216.2:c.700C>T	NP_001280145.1:p.Arg234Cys
NR_120608.2:n.472C>T