Canonical Allele Identifier: CA236622465

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1555162340
• MyVariant Identifiers: chr12:g.49579327_49579328insG (hg19) ; chr12:g.49185544_49185545insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185548dup , CM000674.2:g.49185548dup	GRCh38
NC_000012.11:g.49579331dup , CM000674.1:g.49579331dup	GRCh37
NC_000012.10:g.47865598dup	NCBI36
NG_008966.1:g.8534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.821dup MANE Select	ENSP00000301071.7:p.Val275CysfsTer5
ENST00000547939.6:c.716dup	ENSP00000450268.2:p.Val240CysfsTer5
ENST00000550767.6:c.716dup	ENSP00000446637.1:p.Val240CysfsTer5
ENST00000550811.2:n.1854dup
ENST00000552924.2:c.716dup	ENSP00000448725.2:p.Val240CysfsTer5
ENST00000679733.1:c.*277dup	ENSP00000505459.1:n.*277dup
ENST00000295766.9:c.821dup	ENSP00000439020.2:p.Val275CysfsTer5
ENST00000301071.11:c.821dup	ENSP00000301071.7:p.Val275CysfsTer5
ENST00000550767.5:c.716dup	ENSP00000446637.1:p.Val240CysfsTer5
NM_001270399.1:c.821dup	NP_001257328.1:p.Val275CysfsTer5
NM_001270400.1:c.716dup	NP_001257329.1:p.Val240CysfsTer5
NM_006009.3:c.821dup	NP_006000.2:p.Val275CysfsTer5
NM_006009.4:c.821dup MANE Select	NP_006000.2:p.Val275CysfsTer5
NM_001270399.2:c.821dup	NP_001257328.1:p.Val275CysfsTer5
NM_001270400.2:c.716dup	NP_001257329.1:p.Val240CysfsTer5