Canonical Allele Identifier: CA363148453

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691597T>A (hg19) ; chr6:g.30723820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723820T>A , CM000668.2:g.30723820T>A	GRCh38
NC_000006.11:g.30691597T>A , CM000668.1:g.30691597T>A	GRCh37
NC_000006.10:g.30799576T>A	NCBI36
NG_034142.1:g.8620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.758T>A MANE Select	ENSP00000339001.7:p.Leu253Ter
ENST00000680530.1:n.1620T>A
ENST00000681421.1:n.1824T>A
ENST00000681435.1:c.542T>A	ENSP00000506665.1:p.Leu181Ter
ENST00000327892.12:c.758T>A	ENSP00000339001.7:p.Leu253Ter
ENST00000330914.7:c.542T>A	ENSP00000365578.2:p.Leu181Ter
ENST00000396384.1:c.542T>A	ENSP00000379668.1:p.Leu181Ter
ENST00000396389.5:c.704T>A	ENSP00000379672.1:p.Leu235Ter
NM_001293212.1:c.818T>A	NP_001280141.1:p.Leu273Ter
NM_001293213.1:c.370-218T>A	NP_001280142.1:n.370-218T>A
NM_001293214.1:c.626T>A	NP_001280143.1:p.Leu209Ter
NM_001293215.1:c.542T>A	NP_001280144.1:p.Leu181Ter
NM_001293216.1:c.542T>A	NP_001280145.1:p.Leu181Ter
NM_178014.3:c.758T>A	NP_821133.1:p.Leu253Ter
NR_120608.1:n.584-119T>A
NM_178014.4:c.758T>A MANE Select	NP_821133.1:p.Leu253Ter
NM_001293212.2:c.818T>A	NP_001280141.1:p.Leu273Ter
NM_001293213.2:c.370-218T>A	NP_001280142.1:n.370-218T>A
NM_001293214.2:c.626T>A	NP_001280143.1:p.Leu209Ter
NM_001293215.2:c.542T>A	NP_001280144.1:p.Leu181Ter
NM_001293216.2:c.542T>A	NP_001280145.1:p.Leu181Ter
NR_120608.2:n.433-119T>A