Canonical Allele Identifier: CA213164

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 7076
• ClinVar RCV Id: RCV000007492 ; RCV000432377 ; RCV000622854 ; RCV000767469
• dbSNP Id: rs137853049
• COSMIC: COSM5898464
• MyVariant Identifiers: chr12:g.49578885G>A (hg19) ; chr12:g.49185102G>A (hg38)
• PubMed: PMID:17584854 ; PMID:18669490 ; PMID:18728072 ; PMID:18954413 ; PMID:20466733 ; PMID:22264709 ; PMID:23361065 ; PMID:23528852 ; PMID:24860126 ; PMID:25008804 ; PMID:26795593

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185102G>A , CM000674.2:g.49185102G>A	GRCh38
NC_000012.11:g.49578885G>A , CM000674.1:g.49578885G>A	GRCh37
NC_000012.10:g.47865152G>A	NCBI36
NG_008966.1:g.8977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1264C>T MANE Select	ENSP00000301071.7:p.Arg422Cys
ENST00000547939.6:c.1159C>T	ENSP00000450268.2:p.Arg387Cys
ENST00000550767.6:c.1159C>T	ENSP00000446637.1:p.Arg387Cys
ENST00000550811.2:n.2297C>T
ENST00000552924.2:c.1159C>T	ENSP00000448725.2:p.Arg387Cys
ENST00000679733.1:c.*720C>T	ENSP00000505459.1:n.*720C>T
ENST00000295766.9:c.1264C>T	ENSP00000439020.2:p.Arg422Cys
ENST00000301071.11:c.1264C>T	ENSP00000301071.7:p.Arg422Cys
ENST00000550767.5:c.1159C>T	ENSP00000446637.1:p.Arg387Cys
NM_001270399.1:c.1264C>T	NP_001257328.1:p.Arg422Cys
NM_001270400.1:c.1159C>T	NP_001257329.1:p.Arg387Cys
NM_006009.3:c.1264C>T	NP_006000.2:p.Arg422Cys
NM_006009.4:c.1264C>T MANE Select	NP_006000.2:p.Arg422Cys
NM_001270399.2:c.1264C>T	NP_001257328.1:p.Arg422Cys
NM_001270400.2:c.1159C>T	NP_001257329.1:p.Arg387Cys