Canonical Allele Identifier: CA384638801

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1805565
• ClinVar RCV Id: RCV002471983
• COSMIC: COSM1269501
• MyVariant Identifiers: chr12:g.49579260C>T (hg19) ; chr12:g.49185477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185477C>T , CM000674.2:g.49185477C>T	GRCh38
NC_000012.11:g.49579260C>T , CM000674.1:g.49579260C>T	GRCh37
NC_000012.10:g.47865527C>T	NCBI36
NG_008966.1:g.8602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.889G>A MANE Select	ENSP00000301071.7:p.Glu297Lys
ENST00000547939.6:c.784G>A	ENSP00000450268.2:p.Glu262Lys
ENST00000550767.6:c.784G>A	ENSP00000446637.1:p.Glu262Lys
ENST00000550811.2:n.1922G>A
ENST00000552924.2:c.784G>A	ENSP00000448725.2:p.Glu262Lys
ENST00000679733.1:c.*345G>A	ENSP00000505459.1:n.*345G>A
ENST00000295766.9:c.889G>A	ENSP00000439020.2:p.Glu297Lys
ENST00000301071.11:c.889G>A	ENSP00000301071.7:p.Glu297Lys
ENST00000550767.5:c.784G>A	ENSP00000446637.1:p.Glu262Lys
NM_001270399.1:c.889G>A	NP_001257328.1:p.Glu297Lys
NM_001270400.1:c.784G>A	NP_001257329.1:p.Glu262Lys
NM_006009.3:c.889G>A	NP_006000.2:p.Glu297Lys
NM_006009.4:c.889G>A MANE Select	NP_006000.2:p.Glu297Lys
NM_001270399.2:c.889G>A	NP_001257328.1:p.Glu297Lys
NM_001270400.2:c.784G>A	NP_001257329.1:p.Glu262Lys