Canonical Allele Identifier: CA384637833

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 864866
• ClinVar RCV Id: RCV001072149 ; RCV002067728
• dbSNP Id: rs1942168488
• MyVariant Identifiers: chr12:g.49579191G>A (hg19) ; chr12:g.49185408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185408G>A , CM000674.2:g.49185408G>A	GRCh38
NC_000012.11:g.49579191G>A , CM000674.1:g.49579191G>A	GRCh37
NC_000012.10:g.47865458G>A	NCBI36
NG_008966.1:g.8671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.958C>T MANE Select	ENSP00000301071.7:p.Arg320Cys
ENST00000547939.6:c.853C>T	ENSP00000450268.2:p.Arg285Cys
ENST00000550767.6:c.853C>T	ENSP00000446637.1:p.Arg285Cys
ENST00000550811.2:n.1991C>T
ENST00000552924.2:c.853C>T	ENSP00000448725.2:p.Arg285Cys
ENST00000679733.1:c.*414C>T	ENSP00000505459.1:n.*414C>T
ENST00000295766.9:c.958C>T	ENSP00000439020.2:p.Arg320Cys
ENST00000301071.11:c.958C>T	ENSP00000301071.7:p.Arg320Cys
ENST00000550767.5:c.853C>T	ENSP00000446637.1:p.Arg285Cys
NM_001270399.1:c.958C>T	NP_001257328.1:p.Arg320Cys
NM_001270400.1:c.853C>T	NP_001257329.1:p.Arg285Cys
NM_006009.3:c.958C>T	NP_006000.2:p.Arg320Cys
NM_006009.4:c.958C>T MANE Select	NP_006000.2:p.Arg320Cys
NM_001270399.2:c.958C>T	NP_001257328.1:p.Arg320Cys
NM_001270400.2:c.853C>T	NP_001257329.1:p.Arg285Cys