Canonical Allele Identifier: CA384641487

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 864864
• ClinVar RCV Id: RCV001072147
• dbSNP Id: rs1942172759
• MyVariant Identifiers: chr12:g.49579551A>G (hg19) ; chr12:g.49185768A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185768A>G , CM000674.2:g.49185768A>G	GRCh38
NC_000012.11:g.49579551A>G , CM000674.1:g.49579551A>G	GRCh37
NC_000012.10:g.47865818A>G	NCBI36
NG_008966.1:g.8311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.598T>C MANE Select	ENSP00000301071.7:p.Cys200Arg
ENST00000547939.6:c.493T>C	ENSP00000450268.2:p.Cys165Arg
ENST00000550767.6:c.493T>C	ENSP00000446637.1:p.Cys165Arg
ENST00000550811.2:n.1631T>C
ENST00000552924.2:c.493T>C	ENSP00000448725.2:p.Cys165Arg
ENST00000679733.1:c.*54T>C	ENSP00000505459.1:n.*54T>C
ENST00000295766.9:c.598T>C	ENSP00000439020.2:p.Cys200Arg
ENST00000301071.11:c.598T>C	ENSP00000301071.7:p.Cys200Arg
ENST00000546918.1:c.*54T>C	ENSP00000446613.1:n.*54T>C
ENST00000547939.5:c.493T>C	ENSP00000450268.1:p.Cys165Arg
ENST00000550767.5:c.493T>C	ENSP00000446637.1:p.Cys165Arg
NM_001270399.1:c.598T>C	NP_001257328.1:p.Cys200Arg
NM_001270400.1:c.493T>C	NP_001257329.1:p.Cys165Arg
NM_006009.3:c.598T>C	NP_006000.2:p.Cys200Arg
NM_006009.4:c.598T>C MANE Select	NP_006000.2:p.Cys200Arg
NM_001270399.2:c.598T>C	NP_001257328.1:p.Cys200Arg
NM_001270400.2:c.493T>C	NP_001257329.1:p.Cys165Arg