Canonical Allele Identifier: CA384641180

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1012609
• ClinVar RCV Id: RCV001310648
• dbSNP Id: rs1942172546
• MyVariant Identifiers: chr12:g.49579518C>T (hg19) ; chr12:g.49185735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185735C>T , CM000674.2:g.49185735C>T	GRCh38
NC_000012.11:g.49579518C>T , CM000674.1:g.49579518C>T	GRCh37
NC_000012.10:g.47865785C>T	NCBI36
NG_008966.1:g.8344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.631G>A MANE Select	ENSP00000301071.7:p.Asp211Asn
ENST00000547939.6:c.526G>A	ENSP00000450268.2:p.Asp176Asn
ENST00000550767.6:c.526G>A	ENSP00000446637.1:p.Asp176Asn
ENST00000550811.2:n.1664G>A
ENST00000552924.2:c.526G>A	ENSP00000448725.2:p.Asp176Asn
ENST00000679733.1:c.*87G>A	ENSP00000505459.1:n.*87G>A
ENST00000295766.9:c.631G>A	ENSP00000439020.2:p.Asp211Asn
ENST00000301071.11:c.631G>A	ENSP00000301071.7:p.Asp211Asn
ENST00000546918.1:c.*87G>A	ENSP00000446613.1:n.*87G>A
ENST00000547939.5:c.526G>A	ENSP00000450268.1:p.Asp176Asn
ENST00000550767.5:c.526G>A	ENSP00000446637.1:p.Asp176Asn
NM_001270399.1:c.631G>A	NP_001257328.1:p.Asp211Asn
NM_001270400.1:c.526G>A	NP_001257329.1:p.Asp176Asn
NM_006009.3:c.631G>A	NP_006000.2:p.Asp211Asn
NM_006009.4:c.631G>A MANE Select	NP_006000.2:p.Asp211Asn
NM_001270399.2:c.631G>A	NP_001257328.1:p.Asp211Asn
NM_001270400.2:c.526G>A	NP_001257329.1:p.Asp176Asn