Canonical Allele Identifier: CA397477083

Gene: TUBB3

Linked Data

• gnomAD v4: 16-89935706-G-T
• MyVariant Identifiers: chr16:g.90002114G>T (hg19) ; chr16:g.89935706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935706G>T , CM000678.2:g.89935706G>T	GRCh38
NC_000016.9:g.90002114G>T , CM000678.1:g.90002114G>T	GRCh37
NC_000016.8:g.88529615G>T	NCBI36
NG_027810.1:g.18698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1255G>T MANE Select	ENSP00000320295.7:p.Val419Leu
ENST00000680788.1:n.4676G>T
ENST00000315491.11:c.1255G>T	ENSP00000320295.7:p.Val419Leu
ENST00000554444.5:c.1039G>T	ENSP00000451617.1:p.Val347Leu
ENST00000555576.5:c.277+2128G>T	ENSP00000452554.1:n.277+2128G>T
ENST00000555609.5:c.*1340G>T	ENSP00000451276.1:n.*1340G>T
ENST00000556922.1:c.2296G>T	ENSP00000451560.1:p.Val766Leu
NM_001197181.1:c.1039G>T	NP_001184110.1:p.Val347Leu
NM_006086.3:c.1255G>T	NP_006077.2:p.Val419Leu
NM_006086.4:c.1255G>T MANE Select	NP_006077.2:p.Val419Leu
NM_001197181.2:c.1039G>T	NP_001184110.1:p.Val347Leu