Canonical Allele Identifier: CA16620315

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 421587
• ClinVar RCV Id: RCV000480489
• dbSNP Id: rs1064795231
• MyVariant Identifiers: chr16:g.90001704G>C (hg19) ; chr16:g.89935296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935296G>C , CM000678.2:g.89935296G>C	GRCh38
NC_000016.9:g.90001704G>C , CM000678.1:g.90001704G>C	GRCh37
NC_000016.8:g.88529205G>C	NCBI36
NG_027810.1:g.18288G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.845G>C MANE Select	ENSP00000320295.7:p.Arg282Pro
ENST00000680788.1:n.4266G>C
ENST00000315491.11:c.845G>C	ENSP00000320295.7:p.Arg282Pro
ENST00000554444.5:c.629G>C	ENSP00000451617.1:p.Arg210Pro
ENST00000555576.5:c.277+1718G>C	ENSP00000452554.1:n.277+1718G>C
ENST00000555609.5:c.*930G>C	ENSP00000451276.1:n.*930G>C
ENST00000556922.1:c.1886G>C	ENSP00000451560.1:p.Arg629Pro
NM_001197181.1:c.629G>C	NP_001184110.1:p.Arg210Pro
NM_006086.3:c.845G>C	NP_006077.2:p.Arg282Pro
NM_006086.4:c.845G>C MANE Select	NP_006077.2:p.Arg282Pro
NM_001197181.2:c.629G>C	NP_001184110.1:p.Arg210Pro