Canonical Allele Identifier: CA16619550

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 422375
• ClinVar RCV Id: RCV000479503 ; RCV000767503
• dbSNP Id: rs1064795738
• MyVariant Identifiers: chr12:g.49579434T>G (hg19) ; chr12:g.49185651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185651T>G , CM000674.2:g.49185651T>G	GRCh38
NC_000012.11:g.49579434T>G , CM000674.1:g.49579434T>G	GRCh37
NC_000012.10:g.47865701T>G	NCBI36
NG_008966.1:g.8428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.715A>C MANE Select	ENSP00000301071.7:p.Thr239Pro
ENST00000547939.6:c.610A>C	ENSP00000450268.2:p.Thr204Pro
ENST00000550767.6:c.610A>C	ENSP00000446637.1:p.Thr204Pro
ENST00000550811.2:n.1748A>C
ENST00000552924.2:c.610A>C	ENSP00000448725.2:p.Thr204Pro
ENST00000679733.1:c.*171A>C	ENSP00000505459.1:n.*171A>C
ENST00000295766.9:c.715A>C	ENSP00000439020.2:p.Thr239Pro
ENST00000301071.11:c.715A>C	ENSP00000301071.7:p.Thr239Pro
ENST00000546918.1:c.*171A>C	ENSP00000446613.1:n.*171A>C
ENST00000547939.5:c.610A>C	ENSP00000450268.1:p.Thr204Pro
ENST00000550767.5:c.610A>C	ENSP00000446637.1:p.Thr204Pro
NM_001270399.1:c.715A>C	NP_001257328.1:p.Thr239Pro
NM_001270400.1:c.610A>C	NP_001257329.1:p.Thr204Pro
NM_006009.3:c.715A>C	NP_006000.2:p.Thr239Pro
NM_006009.4:c.715A>C MANE Select	NP_006000.2:p.Thr239Pro
NM_001270399.2:c.715A>C	NP_001257328.1:p.Thr239Pro
NM_001270400.2:c.610A>C	NP_001257329.1:p.Thr204Pro