Canonical Allele Identifier: CA363148449

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691596T>G (hg19) ; chr6:g.30723819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723819T>G , CM000668.2:g.30723819T>G	GRCh38
NC_000006.11:g.30691596T>G , CM000668.1:g.30691596T>G	GRCh37
NC_000006.10:g.30799575T>G	NCBI36
NG_034142.1:g.8619T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.757T>G MANE Select	ENSP00000339001.7:p.Leu253Val
ENST00000680530.1:n.1619T>G
ENST00000681421.1:n.1823T>G
ENST00000681435.1:c.541T>G	ENSP00000506665.1:p.Leu181Val
ENST00000327892.12:c.757T>G	ENSP00000339001.7:p.Leu253Val
ENST00000330914.7:c.541T>G	ENSP00000365578.2:p.Leu181Val
ENST00000396384.1:c.541T>G	ENSP00000379668.1:p.Leu181Val
ENST00000396389.5:c.703T>G	ENSP00000379672.1:p.Leu235Val
NM_001293212.1:c.817T>G	NP_001280141.1:p.Leu273Val
NM_001293213.1:c.370-219T>G	NP_001280142.1:n.370-219T>G
NM_001293214.1:c.625T>G	NP_001280143.1:p.Leu209Val
NM_001293215.1:c.541T>G	NP_001280144.1:p.Leu181Val
NM_001293216.1:c.541T>G	NP_001280145.1:p.Leu181Val
NM_178014.3:c.757T>G	NP_821133.1:p.Leu253Val
NR_120608.1:n.584-120T>G
NM_178014.4:c.757T>G MANE Select	NP_821133.1:p.Leu253Val
NM_001293212.2:c.817T>G	NP_001280141.1:p.Leu273Val
NM_001293213.2:c.370-219T>G	NP_001280142.1:n.370-219T>G
NM_001293214.2:c.625T>G	NP_001280143.1:p.Leu209Val
NM_001293215.2:c.541T>G	NP_001280144.1:p.Leu181Val
NM_001293216.2:c.541T>G	NP_001280145.1:p.Leu181Val
NR_120608.2:n.433-120T>G