Canonical Allele Identifier: CA397475389

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 2581949
• ClinVar RCV Id: RCV003332655
• gnomAD v4: 16-89935252-G-A
• MyVariant Identifiers: chr16:g.90001660G>A (hg19) ; chr16:g.89935252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935252G>A , CM000678.2:g.89935252G>A	GRCh38
NC_000016.9:g.90001660G>A , CM000678.1:g.90001660G>A	GRCh37
NC_000016.8:g.88529161G>A	NCBI36
NG_027810.1:g.18244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.801G>A MANE Select	ENSP00000320295.7:p.Met267Ile
ENST00000680788.1:n.4222G>A
ENST00000315491.11:c.801G>A	ENSP00000320295.7:p.Met267Ile
ENST00000554444.5:c.585G>A	ENSP00000451617.1:p.Met195Ile
ENST00000555576.5:c.277+1674G>A	ENSP00000452554.1:n.277+1674G>A
ENST00000555609.5:c.*886G>A	ENSP00000451276.1:n.*886G>A
ENST00000556922.1:c.1842G>A	ENSP00000451560.1:p.Met614Ile
NM_001197181.1:c.585G>A	NP_001184110.1:p.Met195Ile
NM_006086.3:c.801G>A	NP_006077.2:p.Met267Ile
NM_006086.4:c.801G>A MANE Select	NP_006077.2:p.Met267Ile
NM_001197181.2:c.585G>A	NP_001184110.1:p.Met195Ile