Canonical Allele Identifier: CA397476852

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 2988943
• ClinVar RCV Id: RCV003847110
• dbSNP Id: rs2151093088
• gnomAD v4: 16-89935608-C-T
• COSMIC: COSM4738310
• MyVariant Identifiers: chr16:g.90002016C>T (hg19) ; chr16:g.89935608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935608C>T , CM000678.2:g.89935608C>T	GRCh38
NC_000016.9:g.90002016C>T , CM000678.1:g.90002016C>T	GRCh37
NC_000016.8:g.88529517C>T	NCBI36
NG_027810.1:g.18600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1157C>T MANE Select	ENSP00000320295.7:p.Thr386Met
ENST00000680788.1:n.4578C>T
ENST00000315491.11:c.1157C>T	ENSP00000320295.7:p.Thr386Met
ENST00000554444.5:c.941C>T	ENSP00000451617.1:p.Thr314Met
ENST00000555576.5:c.277+2030C>T	ENSP00000452554.1:n.277+2030C>T
ENST00000555609.5:c.*1242C>T	ENSP00000451276.1:n.*1242C>T
ENST00000556922.1:c.2198C>T	ENSP00000451560.1:p.Thr733Met
NM_001197181.1:c.941C>T	NP_001184110.1:p.Thr314Met
NM_006086.3:c.1157C>T	NP_006077.2:p.Thr386Met
NM_006086.4:c.1157C>T MANE Select	NP_006077.2:p.Thr386Met
NM_001197181.2:c.941C>T	NP_001184110.1:p.Thr314Met