Canonical Allele Identifier: CA397471028

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 438582
• ClinVar RCV Id: RCV000656083 ; RCV001824143 ; RCV003126774 ; RCV002461261
• dbSNP Id: rs1555625363
• MyVariant Identifiers: chr16:g.89999057C>T (hg19) ; chr16:g.89932649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89932649C>T , CM000678.2:g.89932649C>T	GRCh38
NC_000016.9:g.89999057C>T , CM000678.1:g.89999057C>T	GRCh37
NC_000016.8:g.88526558C>T	NCBI36
NG_027810.1:g.15641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.136C>T MANE Select	ENSP00000320295.7:p.Arg46Trp
ENST00000680647.1:n.2385C>T
ENST00000680788.1:n.3557C>T
ENST00000315491.11:c.136C>T	ENSP00000320295.7:p.Arg46Trp
ENST00000553656.5:c.*119C>T	ENSP00000452001.1:n.*119C>T
ENST00000553967.1:c.136C>T	ENSP00000450765.1:p.Arg46Trp
ENST00000554336.5:c.136C>T	ENSP00000450822.1:p.Arg46Trp
ENST00000554444.5:c.-81C>T	ENSP00000451617.1:n.-81C>T
ENST00000554927.1:n.193C>T
ENST00000555576.5:c.136C>T	ENSP00000452554.1:p.Arg46Trp
ENST00000555609.5:c.136C>T	ENSP00000451276.1:p.Arg46Trp
ENST00000555810.5:c.-81C>T	ENSP00000450538.1:n.-81C>T
ENST00000556536.5:c.136C>T	ENSP00000451378.1:p.Arg46Trp
ENST00000556565.5:c.-81C>T	ENSP00000452166.1:n.-81C>T
ENST00000556922.1:c.1177C>T	ENSP00000451560.1:p.Arg393Trp
ENST00000557262.5:c.*119C>T	ENSP00000451985.1:n.*119C>T
ENST00000557490.5:c.136C>T	ENSP00000451465.1:p.Arg46Trp
ENST00000625617.2:c.136C>T	ENSP00000485859.1:p.Arg46Trp
NM_001197181.1:c.-81C>T	NP_001184110.1:n.-81C>T
NM_006086.3:c.136C>T	NP_006077.2:p.Arg46Trp
NM_006086.4:c.136C>T MANE Select	NP_006077.2:p.Arg46Trp
NM_001197181.2:c.-81C>T	NP_001184110.1:n.-81C>T