Canonical Allele Identifier: CA3703553

Gene: TUBB

Linked Data

• dbSNP Id: rs560390544
• ExAC: 6:30691652 C / T
• gnomAD v2: 6-30691652-C-T
• gnomAD v3: 6-30723875-C-T
• gnomAD v4: 6-30723875-C-T
• MyVariant Identifiers: chr6:g.30691652C>T (hg19) ; chr6:g.30723875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723875C>T , CM000668.2:g.30723875C>T	GRCh38
NC_000006.11:g.30691652C>T , CM000668.1:g.30691652C>T	GRCh37
NC_000006.10:g.30799631C>T	NCBI36
NG_034142.1:g.8675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.813C>T MANE Select	ENSP00000339001.7:p.Ala271=
ENST00000680530.1:n.1675C>T
ENST00000681421.1:n.1879C>T
ENST00000681435.1:c.597C>T	ENSP00000506665.1:p.Ala199=
ENST00000327892.12:c.813C>T	ENSP00000339001.7:p.Ala271=
ENST00000330914.7:c.597C>T	ENSP00000365578.2:p.Ala199=
ENST00000396384.1:c.597C>T	ENSP00000379668.1:p.Ala199=
ENST00000396389.5:c.759C>T	ENSP00000379672.1:p.Ala253=
NM_001293212.1:c.873C>T	NP_001280141.1:p.Ala291=
NM_001293213.1:c.370-163C>T	NP_001280142.1:n.370-163C>T
NM_001293214.1:c.681C>T	NP_001280143.1:p.Ala227=
NM_001293215.1:c.597C>T	NP_001280144.1:p.Ala199=
NM_001293216.1:c.597C>T	NP_001280145.1:p.Ala199=
NM_178014.3:c.813C>T	NP_821133.1:p.Ala271=
NR_120608.1:n.584-64C>T
NM_178014.4:c.813C>T MANE Select	NP_821133.1:p.Ala271=
NM_001293212.2:c.873C>T	NP_001280141.1:p.Ala291=
NM_001293213.2:c.370-163C>T	NP_001280142.1:n.370-163C>T
NM_001293214.2:c.681C>T	NP_001280143.1:p.Ala227=
NM_001293215.2:c.597C>T	NP_001280144.1:p.Ala199=
NM_001293216.2:c.597C>T	NP_001280145.1:p.Ala199=
NR_120608.2:n.433-64C>T