Canonical Allele Identifier: CA384642420

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 988579
• ClinVar RCV Id: RCV001270022
• dbSNP Id: rs1942174390
• COSMIC: COSM4042433
• MyVariant Identifiers: chr12:g.49579682C>T (hg19) ; chr12:g.49185899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185899C>T , CM000674.2:g.49185899C>T	GRCh38
NC_000012.11:g.49579682C>T , CM000674.1:g.49579682C>T	GRCh37
NC_000012.10:g.47865949C>T	NCBI36
NG_008966.1:g.8180G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.467G>A MANE Select	ENSP00000301071.7:p.Arg156His
ENST00000547939.6:c.362G>A	ENSP00000450268.2:p.Arg121His
ENST00000550767.6:c.362G>A	ENSP00000446637.1:p.Arg121His
ENST00000550811.2:n.1500G>A
ENST00000552924.2:c.362G>A	ENSP00000448725.2:p.Arg121His
ENST00000679733.1:c.490G>A	ENSP00000505459.1:p.Val164Ile
ENST00000295766.9:c.467G>A	ENSP00000439020.2:p.Arg156His
ENST00000301071.11:c.467G>A	ENSP00000301071.7:p.Arg156His
ENST00000546918.1:c.619G>A	ENSP00000446613.1:p.Val207Ile
ENST00000547939.5:c.362G>A	ENSP00000450268.1:p.Arg121His
ENST00000550767.5:c.362G>A	ENSP00000446637.1:p.Arg121His
NM_001270399.1:c.467G>A	NP_001257328.1:p.Arg156His
NM_001270400.1:c.362G>A	NP_001257329.1:p.Arg121His
NM_006009.3:c.467G>A	NP_006000.2:p.Arg156His
NM_006009.4:c.467G>A MANE Select	NP_006000.2:p.Arg156His
NM_001270399.2:c.467G>A	NP_001257328.1:p.Arg156His
NM_001270400.2:c.362G>A	NP_001257329.1:p.Arg121His