Canonical Allele Identifier: CA384635115

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 488628
• ClinVar RCV Id: RCV000578289 ; RCV000767476 ; RCV001562806
• dbSNP Id: rs1064796460
• COSMIC: COSM1318009
• MyVariant Identifiers: chr12:g.49578980C>T (hg19) ; chr12:g.49185197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185197C>T , CM000674.2:g.49185197C>T	GRCh38
NC_000012.11:g.49578980C>T , CM000674.1:g.49578980C>T	GRCh37
NC_000012.10:g.47865247C>T	NCBI36
NG_008966.1:g.8882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1169G>A MANE Select	ENSP00000301071.7:p.Arg390His
ENST00000547939.6:c.1064G>A	ENSP00000450268.2:p.Arg355His
ENST00000550767.6:c.1064G>A	ENSP00000446637.1:p.Arg355His
ENST00000550811.2:n.2202G>A
ENST00000552924.2:c.1064G>A	ENSP00000448725.2:p.Arg355His
ENST00000679733.1:c.*625G>A	ENSP00000505459.1:n.*625G>A
ENST00000295766.9:c.1169G>A	ENSP00000439020.2:p.Arg390His
ENST00000301071.11:c.1169G>A	ENSP00000301071.7:p.Arg390His
ENST00000550767.5:c.1064G>A	ENSP00000446637.1:p.Arg355His
NM_001270399.1:c.1169G>A	NP_001257328.1:p.Arg390His
NM_001270400.1:c.1064G>A	NP_001257329.1:p.Arg355His
NM_006009.3:c.1169G>A	NP_006000.2:p.Arg390His
NM_006009.4:c.1169G>A MANE Select	NP_006000.2:p.Arg390His
NM_001270399.2:c.1169G>A	NP_001257328.1:p.Arg390His
NM_001270400.2:c.1064G>A	NP_001257329.1:p.Arg355His