Canonical Allele Identifier: CA213298

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 160195
• ClinVar RCV Id: RCV000147856 ; RCV000764099 ; RCV001550956
• dbSNP Id: rs587784506
• COSMIC: COSM1563434
• MyVariant Identifiers: chr16:g.90001587C>T (hg19) ; chr16:g.89935179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935179C>T , CM000678.2:g.89935179C>T	GRCh38
NC_000016.9:g.90001587C>T , CM000678.1:g.90001587C>T	GRCh37
NC_000016.8:g.88529088C>T	NCBI36
NG_027810.1:g.18171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.728C>T MANE Select	ENSP00000320295.7:p.Pro243Leu
ENST00000680788.1:n.4149C>T
ENST00000315491.11:c.728C>T	ENSP00000320295.7:p.Pro243Leu
ENST00000554444.5:c.512C>T	ENSP00000451617.1:p.Pro171Leu
ENST00000555576.5:c.277+1601C>T	ENSP00000452554.1:n.277+1601C>T
ENST00000555609.5:c.*813C>T	ENSP00000451276.1:n.*813C>T
ENST00000555810.5:c.512C>T	ENSP00000450538.1:p.Pro171Leu
ENST00000556922.1:c.1769C>T	ENSP00000451560.1:p.Pro590Leu
NM_001197181.1:c.512C>T	NP_001184110.1:p.Pro171Leu
NM_006086.3:c.728C>T	NP_006077.2:p.Pro243Leu
NM_006086.4:c.728C>T MANE Select	NP_006077.2:p.Pro243Leu
NM_001197181.2:c.512C>T	NP_001184110.1:p.Pro171Leu