Canonical Allele Identifier: CA384641225

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1803083
• ClinVar RCV Id: RCV002466380
• MyVariant Identifiers: chr12:g.49579523A>G (hg19) ; chr12:g.49185740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185740A>G , CM000674.2:g.49185740A>G	GRCh38
NC_000012.11:g.49579523A>G , CM000674.1:g.49579523A>G	GRCh37
NC_000012.10:g.47865790A>G	NCBI36
NG_008966.1:g.8339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.626T>C MANE Select	ENSP00000301071.7:p.Ile209Thr
ENST00000547939.6:c.521T>C	ENSP00000450268.2:p.Ile174Thr
ENST00000550767.6:c.521T>C	ENSP00000446637.1:p.Ile174Thr
ENST00000550811.2:n.1659T>C
ENST00000552924.2:c.521T>C	ENSP00000448725.2:p.Ile174Thr
ENST00000679733.1:c.*82T>C	ENSP00000505459.1:n.*82T>C
ENST00000295766.9:c.626T>C	ENSP00000439020.2:p.Ile209Thr
ENST00000301071.11:c.626T>C	ENSP00000301071.7:p.Ile209Thr
ENST00000546918.1:c.*82T>C	ENSP00000446613.1:n.*82T>C
ENST00000547939.5:c.521T>C	ENSP00000450268.1:p.Ile174Thr
ENST00000550767.5:c.521T>C	ENSP00000446637.1:p.Ile174Thr
NM_001270399.1:c.626T>C	NP_001257328.1:p.Ile209Thr
NM_001270400.1:c.521T>C	NP_001257329.1:p.Ile174Thr
NM_006009.3:c.626T>C	NP_006000.2:p.Ile209Thr
NM_006009.4:c.626T>C MANE Select	NP_006000.2:p.Ile209Thr
NM_001270399.2:c.626T>C	NP_001257328.1:p.Ile209Thr
NM_001270400.2:c.521T>C	NP_001257329.1:p.Ile174Thr