Canonical Allele Identifier: CA397477274

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 1303858
• ClinVar RCV Id: RCV001758151
• dbSNP Id: rs2151093168
• MyVariant Identifiers: chr16:g.90002196C>T (hg19) ; chr16:g.89935788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935788C>T , CM000678.2:g.89935788C>T	GRCh38
NC_000016.9:g.90002196C>T , CM000678.1:g.90002196C>T	GRCh37
NC_000016.8:g.88529697C>T	NCBI36
NG_027810.1:g.18780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1337C>T MANE Select	ENSP00000320295.7:p.Ala446Val
ENST00000680788.1:n.4758C>T
ENST00000315491.11:c.1337C>T	ENSP00000320295.7:p.Ala446Val
ENST00000554444.5:c.1121C>T	ENSP00000451617.1:p.Ala374Val
ENST00000555576.5:c.277+2210C>T	ENSP00000452554.1:n.277+2210C>T
ENST00000555609.5:c.*1422C>T	ENSP00000451276.1:n.*1422C>T
ENST00000556922.1:c.2378C>T	ENSP00000451560.1:p.Ala793Val
NM_001197181.1:c.1121C>T	NP_001184110.1:p.Ala374Val
NM_006086.3:c.1337C>T	NP_006077.2:p.Ala446Val
NM_006086.4:c.1337C>T MANE Select	NP_006077.2:p.Ala446Val
NM_001197181.2:c.1121C>T	NP_001184110.1:p.Ala374Val