Canonical Allele Identifier: CA449776785

Gene: TUBB

Linked Data

• dbSNP Id: rs1353532618
• gnomAD v2: 6-30691721-C-T
• gnomAD v4: 6-30723944-C-T
• MyVariant Identifiers: chr6:g.30691721C>T (hg19) ; chr6:g.30723944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723944C>T , CM000668.2:g.30723944C>T	GRCh38
NC_000006.11:g.30691721C>T , CM000668.1:g.30691721C>T	GRCh37
NC_000006.10:g.30799700C>T	NCBI36
NG_034142.1:g.8744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.882C>T MANE Select	ENSP00000339001.7:p.Phe294=
ENST00000680530.1:n.1744C>T
ENST00000681421.1:n.1948C>T
ENST00000681435.1:c.666C>T	ENSP00000506665.1:p.Phe222=
ENST00000327892.12:c.882C>T	ENSP00000339001.7:p.Phe294=
ENST00000330914.7:c.666C>T	ENSP00000365578.2:p.Phe222=
ENST00000396384.1:c.666C>T	ENSP00000379668.1:p.Phe222=
ENST00000396389.5:c.828C>T	ENSP00000379672.1:p.Phe276=
NM_001293212.1:c.942C>T	NP_001280141.1:p.Phe314=
NM_001293213.1:c.370-94C>T	NP_001280142.1:n.370-94C>T
NM_001293214.1:c.750C>T	NP_001280143.1:p.Phe250=
NM_001293215.1:c.666C>T	NP_001280144.1:p.Phe222=
NM_001293216.1:c.666C>T	NP_001280145.1:p.Phe222=
NM_178014.3:c.882C>T	NP_821133.1:p.Phe294=
NR_120608.1:n.589C>T
NM_178014.4:c.882C>T MANE Select	NP_821133.1:p.Phe294=
NM_001293212.2:c.942C>T	NP_001280141.1:p.Phe314=
NM_001293213.2:c.370-94C>T	NP_001280142.1:n.370-94C>T
NM_001293214.2:c.750C>T	NP_001280143.1:p.Phe250=
NM_001293215.2:c.666C>T	NP_001280144.1:p.Phe222=
NM_001293216.2:c.666C>T	NP_001280145.1:p.Phe222=
NR_120608.2:n.438C>T