Canonical Allele Identifier: CA397477203

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 546220
• ClinVar RCV Id: RCV000658065
• dbSNP Id: rs758528369
• MyVariant Identifiers: chr16:g.90002166T>C (hg19) ; chr16:g.89935758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935758T>C , CM000678.2:g.89935758T>C	GRCh38
NC_000016.9:g.90002166T>C , CM000678.1:g.90002166T>C	GRCh37
NC_000016.8:g.88529667T>C	NCBI36
NG_027810.1:g.18750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1307T>C MANE Select	ENSP00000320295.7:p.Met436Thr
ENST00000680788.1:n.4728T>C
ENST00000315491.11:c.1307T>C	ENSP00000320295.7:p.Met436Thr
ENST00000554444.5:c.1091T>C	ENSP00000451617.1:p.Met364Thr
ENST00000555576.5:c.277+2180T>C	ENSP00000452554.1:n.277+2180T>C
ENST00000555609.5:c.*1392T>C	ENSP00000451276.1:n.*1392T>C
ENST00000556922.1:c.2348T>C	ENSP00000451560.1:p.Met783Thr
NM_001197181.1:c.1091T>C	NP_001184110.1:p.Met364Thr
NM_006086.3:c.1307T>C	NP_006077.2:p.Met436Thr
NM_006086.4:c.1307T>C MANE Select	NP_006077.2:p.Met436Thr
NM_001197181.2:c.1091T>C	NP_001184110.1:p.Met364Thr