Canonical Allele Identifier: CA384644871

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1343239
• ClinVar RCV Id: RCV001843839 ; RCV003708620
• dbSNP Id: rs2121247772
• MyVariant Identifiers: chr12:g.49580432G>A (hg19) ; chr12:g.49186649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186649G>A , CM000674.2:g.49186649G>A	GRCh38
NC_000012.11:g.49580432G>A , CM000674.1:g.49580432G>A	GRCh37
NC_000012.10:g.47866699G>A	NCBI36
NG_008966.1:g.7430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.188C>T MANE Select	ENSP00000301071.7:p.Pro63Leu
ENST00000547939.6:c.83C>T	ENSP00000450268.2:p.Pro28Leu
ENST00000550767.6:c.83C>T	ENSP00000446637.1:p.Pro28Leu
ENST00000550811.2:n.1221C>T
ENST00000552924.2:c.83C>T	ENSP00000448725.2:p.Pro28Leu
ENST00000679733.1:c.188C>T	ENSP00000505459.1:p.Pro63Leu
ENST00000295766.9:c.188C>T	ENSP00000439020.2:p.Pro63Leu
ENST00000301071.11:c.188C>T	ENSP00000301071.7:p.Pro63Leu
ENST00000546918.1:c.188C>T	ENSP00000446613.1:p.Pro63Leu
ENST00000547939.5:c.83C>T	ENSP00000450268.1:p.Pro28Leu
ENST00000548363.1:n.192C>T
ENST00000550254.1:n.210C>T
ENST00000550767.5:c.83C>T	ENSP00000446637.1:p.Pro28Leu
ENST00000552924.1:c.83C>T	ENSP00000448725.1:p.Pro28Leu
NM_001270399.1:c.188C>T	NP_001257328.1:p.Pro63Leu
NM_001270400.1:c.83C>T	NP_001257329.1:p.Pro28Leu
NM_006009.3:c.188C>T	NP_006000.2:p.Pro63Leu
NM_006009.4:c.188C>T MANE Select	NP_006000.2:p.Pro63Leu
NM_001270399.2:c.188C>T	NP_001257328.1:p.Pro63Leu
NM_001270400.2:c.83C>T	NP_001257329.1:p.Pro28Leu