Canonical Allele Identifier: CA397477092

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 1307956
• ClinVar RCV Id: RCV001772811
• dbSNP Id: rs2151093126
• gnomAD v4: 16-89935712-G-A
• COSMIC: COSM3795244
• MyVariant Identifiers: chr16:g.90002120G>A (hg19) ; chr16:g.89935712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935712G>A , CM000678.2:g.89935712G>A	GRCh38
NC_000016.9:g.90002120G>A , CM000678.1:g.90002120G>A	GRCh37
NC_000016.8:g.88529621G>A	NCBI36
NG_027810.1:g.18704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1261G>A MANE Select	ENSP00000320295.7:p.Glu421Lys
ENST00000680788.1:n.4682G>A
ENST00000315491.11:c.1261G>A	ENSP00000320295.7:p.Glu421Lys
ENST00000554444.5:c.1045G>A	ENSP00000451617.1:p.Glu349Lys
ENST00000555576.5:c.277+2134G>A	ENSP00000452554.1:n.277+2134G>A
ENST00000555609.5:c.*1346G>A	ENSP00000451276.1:n.*1346G>A
ENST00000556922.1:c.2302G>A	ENSP00000451560.1:p.Glu768Lys
NM_001197181.1:c.1045G>A	NP_001184110.1:p.Glu349Lys
NM_006086.3:c.1261G>A	NP_006077.2:p.Glu421Lys
NM_006086.4:c.1261G>A MANE Select	NP_006077.2:p.Glu421Lys
NM_001197181.2:c.1045G>A	NP_001184110.1:p.Glu349Lys