Canonical Allele Identifier: CA363148364

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691581G>C (hg19) ; chr6:g.30723804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723804G>C , CM000668.2:g.30723804G>C	GRCh38
NC_000006.11:g.30691581G>C , CM000668.1:g.30691581G>C	GRCh37
NC_000006.10:g.30799560G>C	NCBI36
NG_034142.1:g.8604G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.742G>C MANE Select	ENSP00000339001.7:p.Ala248Pro
ENST00000680530.1:n.1604G>C
ENST00000681421.1:n.1808G>C
ENST00000681435.1:c.526G>C	ENSP00000506665.1:p.Ala176Pro
ENST00000327892.12:c.742G>C	ENSP00000339001.7:p.Ala248Pro
ENST00000330914.7:c.526G>C	ENSP00000365578.2:p.Ala176Pro
ENST00000396384.1:c.526G>C	ENSP00000379668.1:p.Ala176Pro
ENST00000396389.5:c.688G>C	ENSP00000379672.1:p.Ala230Pro
NM_001293212.1:c.802G>C	NP_001280141.1:p.Ala268Pro
NM_001293213.1:c.370-234G>C	NP_001280142.1:n.370-234G>C
NM_001293214.1:c.610G>C	NP_001280143.1:p.Ala204Pro
NM_001293215.1:c.526G>C	NP_001280144.1:p.Ala176Pro
NM_001293216.1:c.526G>C	NP_001280145.1:p.Ala176Pro
NM_178014.3:c.742G>C	NP_821133.1:p.Ala248Pro
NR_120608.1:n.584-135G>C
NM_178014.4:c.742G>C MANE Select	NP_821133.1:p.Ala248Pro
NM_001293212.2:c.802G>C	NP_001280141.1:p.Ala268Pro
NM_001293213.2:c.370-234G>C	NP_001280142.1:n.370-234G>C
NM_001293214.2:c.610G>C	NP_001280143.1:p.Ala204Pro
NM_001293215.2:c.526G>C	NP_001280144.1:p.Ala176Pro
NM_001293216.2:c.526G>C	NP_001280145.1:p.Ala176Pro
NR_120608.2:n.433-135G>C