Canonical Allele Identifier: CA384635354

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 427202
• ClinVar RCV Id: RCV000488967 ; RCV000767440
• dbSNP Id: rs587784482
• MyVariant Identifiers: chr12:g.49579001G>T (hg19) ; chr12:g.49185218G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185218G>T , CM000674.2:g.49185218G>T	GRCh38
NC_000012.11:g.49579001G>T , CM000674.1:g.49579001G>T	GRCh37
NC_000012.10:g.47865268G>T	NCBI36
NG_008966.1:g.8861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1148C>A MANE Select	ENSP00000301071.7:p.Ala383Asp
ENST00000547939.6:c.1043C>A	ENSP00000450268.2:p.Ala348Asp
ENST00000550767.6:c.1043C>A	ENSP00000446637.1:p.Ala348Asp
ENST00000550811.2:n.2181C>A
ENST00000552924.2:c.1043C>A	ENSP00000448725.2:p.Ala348Asp
ENST00000679733.1:c.*604C>A	ENSP00000505459.1:n.*604C>A
ENST00000295766.9:c.1148C>A	ENSP00000439020.2:p.Ala383Asp
ENST00000301071.11:c.1148C>A	ENSP00000301071.7:p.Ala383Asp
ENST00000550767.5:c.1043C>A	ENSP00000446637.1:p.Ala348Asp
NM_001270399.1:c.1148C>A	NP_001257328.1:p.Ala383Asp
NM_001270400.1:c.1043C>A	NP_001257329.1:p.Ala348Asp
NM_006009.3:c.1148C>A	NP_006000.2:p.Ala383Asp
NM_006009.4:c.1148C>A MANE Select	NP_006000.2:p.Ala383Asp
NM_001270399.2:c.1148C>A	NP_001257328.1:p.Ala383Asp
NM_001270400.2:c.1043C>A	NP_001257329.1:p.Ala348Asp