Canonical Allele Identifier: CA10603568

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 280212
• ClinVar RCV Id: RCV000386583 ; RCV001526950
• dbSNP Id: rs886041459
• MyVariant Identifiers: chr16:g.90001548C>T (hg19) ; chr16:g.89935140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935140C>T , CM000678.2:g.89935140C>T	GRCh38
NC_000016.9:g.90001548C>T , CM000678.1:g.90001548C>T	GRCh37
NC_000016.8:g.88529049C>T	NCBI36
NG_027810.1:g.18132C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.689C>T MANE Select	ENSP00000320295.7:p.Ser230Leu
ENST00000680788.1:n.4110C>T
ENST00000315491.11:c.689C>T	ENSP00000320295.7:p.Ser230Leu
ENST00000554444.5:c.473C>T	ENSP00000451617.1:p.Ser158Leu
ENST00000555576.5:c.277+1562C>T	ENSP00000452554.1:n.277+1562C>T
ENST00000555609.5:c.*774C>T	ENSP00000451276.1:n.*774C>T
ENST00000555810.5:c.473C>T	ENSP00000450538.1:p.Ser158Leu
ENST00000556922.1:c.1730C>T	ENSP00000451560.1:p.Ser577Leu
NM_001197181.1:c.473C>T	NP_001184110.1:p.Ser158Leu
NM_006086.3:c.689C>T	NP_006077.2:p.Ser230Leu
NM_006086.4:c.689C>T MANE Select	NP_006077.2:p.Ser230Leu
NM_001197181.2:c.473C>T	NP_001184110.1:p.Ser158Leu