Canonical Allele Identifier: CA3703562

Gene: TUBB

Linked Data

• dbSNP Id: rs532302557
• ExAC: 6:30691775 C / T
• gnomAD v2: 6-30691775-C-T
• gnomAD v3: 6-30723998-C-T
• gnomAD v4: 6-30723998-C-T
• COSMIC: COSM4738297
• MyVariant Identifiers: chr6:g.30691775C>T (hg19) ; chr6:g.30723998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723998C>T , CM000668.2:g.30723998C>T	GRCh38
NC_000006.11:g.30691775C>T , CM000668.1:g.30691775C>T	GRCh37
NC_000006.10:g.30799754C>T	NCBI36
NG_034142.1:g.8798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.936C>T MANE Select	ENSP00000339001.7:p.Thr312=
ENST00000680530.1:n.1798C>T
ENST00000681421.1:n.2002C>T
ENST00000681435.1:c.720C>T	ENSP00000506665.1:p.Thr240=
ENST00000327892.12:c.936C>T	ENSP00000339001.7:p.Thr312=
ENST00000330914.7:c.720C>T	ENSP00000365578.2:p.Thr240=
ENST00000396384.1:c.720C>T	ENSP00000379668.1:p.Thr240=
ENST00000396389.5:c.882C>T	ENSP00000379672.1:p.Thr294=
NM_001293212.1:c.996C>T	NP_001280141.1:p.Thr332=
NM_001293213.1:c.370-40C>T	NP_001280142.1:n.370-40C>T
NM_001293214.1:c.804C>T	NP_001280143.1:p.Thr268=
NM_001293215.1:c.720C>T	NP_001280144.1:p.Thr240=
NM_001293216.1:c.720C>T	NP_001280145.1:p.Thr240=
NM_178014.3:c.936C>T	NP_821133.1:p.Thr312=
NR_120608.1:n.643C>T
NM_178014.4:c.936C>T MANE Select	NP_821133.1:p.Thr312=
NM_001293212.2:c.996C>T	NP_001280141.1:p.Thr332=
NM_001293213.2:c.370-40C>T	NP_001280142.1:n.370-40C>T
NM_001293214.2:c.804C>T	NP_001280143.1:p.Thr268=
NM_001293215.2:c.720C>T	NP_001280144.1:p.Thr240=
NM_001293216.2:c.720C>T	NP_001280145.1:p.Thr240=
NR_120608.2:n.492C>T