Canonical Allele Identifier: CA363148315

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691573A>T (hg19) ; chr6:g.30723796A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723796A>T , CM000668.2:g.30723796A>T	GRCh38
NC_000006.11:g.30691573A>T , CM000668.1:g.30691573A>T	GRCh37
NC_000006.10:g.30799552A>T	NCBI36
NG_034142.1:g.8596A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.734A>T MANE Select	ENSP00000339001.7:p.Gln245Leu
ENST00000680530.1:n.1596A>T
ENST00000681421.1:n.1800A>T
ENST00000681435.1:c.518A>T	ENSP00000506665.1:p.Gln173Leu
ENST00000327892.12:c.734A>T	ENSP00000339001.7:p.Gln245Leu
ENST00000330914.7:c.518A>T	ENSP00000365578.2:p.Gln173Leu
ENST00000396384.1:c.518A>T	ENSP00000379668.1:p.Gln173Leu
ENST00000396389.5:c.680A>T	ENSP00000379672.1:p.Gln227Leu
NM_001293212.1:c.794A>T	NP_001280141.1:p.Gln265Leu
NM_001293213.1:c.370-242A>T	NP_001280142.1:n.370-242A>T
NM_001293214.1:c.602A>T	NP_001280143.1:p.Gln201Leu
NM_001293215.1:c.518A>T	NP_001280144.1:p.Gln173Leu
NM_001293216.1:c.518A>T	NP_001280145.1:p.Gln173Leu
NM_178014.3:c.734A>T	NP_821133.1:p.Gln245Leu
NR_120608.1:n.584-143A>T
NM_178014.4:c.734A>T MANE Select	NP_821133.1:p.Gln245Leu
NM_001293212.2:c.794A>T	NP_001280141.1:p.Gln265Leu
NM_001293213.2:c.370-242A>T	NP_001280142.1:n.370-242A>T
NM_001293214.2:c.602A>T	NP_001280143.1:p.Gln201Leu
NM_001293215.2:c.518A>T	NP_001280144.1:p.Gln173Leu
NM_001293216.2:c.518A>T	NP_001280145.1:p.Gln173Leu
NR_120608.2:n.433-143A>T