Canonical Allele Identifier: CA213256

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 160146
• ClinVar RCV Id: RCV000147798 ; RCV000494633 ; RCV000663417 ; RCV000767408 ; RCV001291300
• dbSNP Id: rs587784483
• MyVariant Identifiers: chr12:g.49578945G>A (hg19) ; chr12:g.49185162G>A (hg38)
• PubMed: PMID:18728072 ; PMID:20466733 ; PMID:27010057

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185162G>A , CM000674.2:g.49185162G>A	GRCh38
NC_000012.11:g.49578945G>A , CM000674.1:g.49578945G>A	GRCh37
NC_000012.10:g.47865212G>A	NCBI36
NG_008966.1:g.8917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1204C>T MANE Select	ENSP00000301071.7:p.Arg402Cys
ENST00000547939.6:c.1099C>T	ENSP00000450268.2:p.Arg367Cys
ENST00000550767.6:c.1099C>T	ENSP00000446637.1:p.Arg367Cys
ENST00000550811.2:n.2237C>T
ENST00000552924.2:c.1099C>T	ENSP00000448725.2:p.Arg367Cys
ENST00000679733.1:c.*660C>T	ENSP00000505459.1:n.*660C>T
ENST00000295766.9:c.1204C>T	ENSP00000439020.2:p.Arg402Cys
ENST00000301071.11:c.1204C>T	ENSP00000301071.7:p.Arg402Cys
ENST00000550767.5:c.1099C>T	ENSP00000446637.1:p.Arg367Cys
NM_001270399.1:c.1204C>T	NP_001257328.1:p.Arg402Cys
NM_001270400.1:c.1099C>T	NP_001257329.1:p.Arg367Cys
NM_006009.3:c.1204C>T	NP_006000.2:p.Arg402Cys
NM_006009.4:c.1204C>T MANE Select	NP_006000.2:p.Arg402Cys
NM_001270399.2:c.1204C>T	NP_001257328.1:p.Arg402Cys
NM_001270400.2:c.1099C>T	NP_001257329.1:p.Arg367Cys