Canonical Allele Identifier: CA8256193

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 749240
• ClinVar RCV Id: RCV000926097
• dbSNP Id: rs61743716
• ExAC: 16:90001852 G / C
• gnomAD v2: 16-90001852-G-C
• gnomAD v3: 16-89935444-G-C
• gnomAD v4: 16-89935444-G-C
• MyVariant Identifiers: chr16:g.90001852G>C (hg19) ; chr16:g.89935444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935444G>C , CM000678.2:g.89935444G>C	GRCh38
NC_000016.9:g.90001852G>C , CM000678.1:g.90001852G>C	GRCh37
NC_000016.8:g.88529353G>C	NCBI36
NG_027810.1:g.18436G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.993G>C MANE Select	ENSP00000320295.7:p.Leu331=
ENST00000680788.1:n.4414G>C
ENST00000315491.11:c.993G>C	ENSP00000320295.7:p.Leu331=
ENST00000554444.5:c.777G>C	ENSP00000451617.1:p.Leu259=
ENST00000555576.5:c.277+1866G>C	ENSP00000452554.1:n.277+1866G>C
ENST00000555609.5:c.*1078G>C	ENSP00000451276.1:n.*1078G>C
ENST00000556922.1:c.2034G>C	ENSP00000451560.1:p.Leu678=
NM_001197181.1:c.777G>C	NP_001184110.1:p.Leu259=
NM_006086.3:c.993G>C	NP_006077.2:p.Leu331=
NM_006086.4:c.993G>C MANE Select	NP_006077.2:p.Leu331=
NM_001197181.2:c.777G>C	NP_001184110.1:p.Leu259=