Canonical Allele Identifier: CA16042849

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 372561
• ClinVar RCV Id: RCV000414596 ; RCV000623405 ; RCV000779653 ; RCV000767505 ; RCV001262357 ; RCV001258014 ; RCV001803691
• dbSNP Id: rs1057517858
• COSMIC: COSM4555385
• MyVariant Identifiers: chr12:g.49579497C>T (hg19) ; chr12:g.49185714C>T (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.49185714C>T , CM000674.2:g.49185714C>T	GRCh38
NC_000012.11:g.49579497C>T , CM000674.1:g.49579497C>T	GRCh37
NC_000012.10:g.47865764C>T	NCBI36
NG_008966.1:g.8365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.652G>A MANE Select	ENSP00000301071.7:p.Asp218Asn
ENST00000547939.6:c.547G>A	ENSP00000450268.2:p.Asp183Asn
ENST00000550767.6:c.547G>A	ENSP00000446637.1:p.Asp183Asn
ENST00000550811.2:n.1685G>A
ENST00000552924.2:c.547G>A	ENSP00000448725.2:p.Asp183Asn
ENST00000679733.1:c.*108G>A	ENSP00000505459.1:n.*108G>A
ENST00000295766.9:c.652G>A	ENSP00000439020.2:p.Asp218Asn
ENST00000301071.11:c.652G>A	ENSP00000301071.7:p.Asp218Asn
ENST00000546918.1:c.*108G>A	ENSP00000446613.1:n.*108G>A
ENST00000547939.5:c.547G>A	ENSP00000450268.1:p.Asp183Asn
ENST00000550767.5:c.547G>A	ENSP00000446637.1:p.Asp183Asn
NM_001270399.1:c.652G>A	NP_001257328.1:p.Asp218Asn
NM_001270400.1:c.547G>A	NP_001257329.1:p.Asp183Asn
NM_006009.3:c.652G>A	NP_006000.2:p.Asp218Asn
NM_006009.4:c.652G>A MANE Select	NP_006000.2:p.Asp218Asn
NM_001270399.2:c.652G>A	NP_001257328.1:p.Asp218Asn
NM_001270400.2:c.547G>A	NP_001257329.1:p.Asp183Asn