Canonical Allele Identifier: CA689586508

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1301583659
• MyVariant Identifiers: chr12:g.49579424_49579425insG (hg19) ; chr12:g.49185641_49185642insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185644dup , CM000674.2:g.49185644dup	GRCh38
NC_000012.11:g.49579427dup , CM000674.1:g.49579427dup	GRCh37
NC_000012.10:g.47865694dup	NCBI36
NG_008966.1:g.8437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.724dup MANE Select	ENSP00000301071.7:p.Leu242ProfsTer4
ENST00000547939.6:c.619dup	ENSP00000450268.2:p.Leu207ProfsTer4
ENST00000550767.6:c.619dup	ENSP00000446637.1:p.Leu207ProfsTer4
ENST00000550811.2:n.1757dup
ENST00000552924.2:c.619dup	ENSP00000448725.2:p.Leu207ProfsTer4
ENST00000679733.1:c.*180dup	ENSP00000505459.1:n.*180dup
ENST00000295766.9:c.724dup	ENSP00000439020.2:p.Leu242ProfsTer4
ENST00000301071.11:c.724dup	ENSP00000301071.7:p.Leu242ProfsTer4
ENST00000546918.1:c.*180dup	ENSP00000446613.1:n.*180dup
ENST00000547939.5:c.619dup	ENSP00000450268.1:p.Leu207ProfsTer4
ENST00000550767.5:c.619dup	ENSP00000446637.1:p.Leu207ProfsTer4
NM_001270399.1:c.724dup	NP_001257328.1:p.Leu242ProfsTer4
NM_001270400.1:c.619dup	NP_001257329.1:p.Leu207ProfsTer4
NM_006009.3:c.724dup	NP_006000.2:p.Leu242ProfsTer4
NM_006009.4:c.724dup MANE Select	NP_006000.2:p.Leu242ProfsTer4
NM_001270399.2:c.724dup	NP_001257328.1:p.Leu242ProfsTer4
NM_001270400.2:c.619dup	NP_001257329.1:p.Leu207ProfsTer4