Canonical Allele Identifier: CA16619551

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 420581
• ClinVar RCV Id: RCV000486860 ; RCV000767424 ; RCV004556059
• dbSNP Id: rs1064794568
• MyVariant Identifiers: chr12:g.49580430G>A (hg19) ; chr12:g.49186647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186647G>A , CM000674.2:g.49186647G>A	GRCh38
NC_000012.11:g.49580430G>A , CM000674.1:g.49580430G>A	GRCh37
NC_000012.10:g.47866697G>A	NCBI36
NG_008966.1:g.7432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.190C>T MANE Select	ENSP00000301071.7:p.Arg64Trp
ENST00000547939.6:c.85C>T	ENSP00000450268.2:p.Arg29Trp
ENST00000550767.6:c.85C>T	ENSP00000446637.1:p.Arg29Trp
ENST00000550811.2:n.1223C>T
ENST00000552924.2:c.85C>T	ENSP00000448725.2:p.Arg29Trp
ENST00000679733.1:c.190C>T	ENSP00000505459.1:p.Arg64Trp
ENST00000295766.9:c.190C>T	ENSP00000439020.2:p.Arg64Trp
ENST00000301071.11:c.190C>T	ENSP00000301071.7:p.Arg64Trp
ENST00000546918.1:c.190C>T	ENSP00000446613.1:p.Arg64Trp
ENST00000547939.5:c.85C>T	ENSP00000450268.1:p.Arg29Trp
ENST00000548363.1:n.194C>T
ENST00000550254.1:n.212C>T
ENST00000550767.5:c.85C>T	ENSP00000446637.1:p.Arg29Trp
ENST00000552924.1:c.85C>T	ENSP00000448725.1:p.Arg29Trp
NM_001270399.1:c.190C>T	NP_001257328.1:p.Arg64Trp
NM_001270400.1:c.85C>T	NP_001257329.1:p.Arg29Trp
NM_006009.3:c.190C>T	NP_006000.2:p.Arg64Trp
NM_006009.4:c.190C>T MANE Select	NP_006000.2:p.Arg64Trp
NM_001270399.2:c.190C>T	NP_001257328.1:p.Arg64Trp
NM_001270400.2:c.85C>T	NP_001257329.1:p.Arg29Trp