Canonical Allele Identifier: CA5870937

Gene: TUB

Linked Data

• ClinVar Variation Id: 1905078
• ClinVar RCV Id: RCV002580604 ; RCV003403859
• dbSNP Id: rs139035034
• ExAC: 11:8111203 C / T
• gnomAD v2: 11-8111203-C-T
• gnomAD v3: 11-8089656-C-T
• gnomAD v4: 11-8089656-C-T
• COSMIC: COSM3453866
• MyVariant Identifiers: chr11:g.8111203C>T (hg19) ; chr11:g.8089656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089656C>T , CM000673.2:g.8089656C>T	GRCh38
NC_000011.9:g.8111203C>T , CM000673.1:g.8111203C>T	GRCh37
NC_000011.8:g.8067779C>T	NCBI36
NG_029912.1:g.56024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.85C>T MANE Select	ENSP00000299506.3:p.Arg29Trp
ENST00000299506.2:c.85C>T	ENSP00000299506.2:p.Arg29Trp
ENST00000305253.8:c.250C>T	ENSP00000305426.4:p.Arg84Trp
ENST00000534099.5:c.103C>T	ENSP00000434400.1:p.Arg35Trp
NM_003320.4:c.250C>T	NP_003311.2:p.Arg84Trp
NM_177972.2:c.85C>T	NP_813977.1:p.Arg29Trp
XM_005253109.2:c.211C>T	XP_005253166.1:p.Arg71Trp
XM_011520344.1:c.121C>T	XP_011518646.1:p.Arg41Trp
XM_005253109.3:c.211C>T	XP_005253166.1:p.Arg71Trp
XM_011520344.2:c.121C>T	XP_011518646.1:p.Arg41Trp
NM_177972.3:c.85C>T MANE Select	NP_813977.1:p.Arg29Trp
NM_003320.5:c.250C>T	NP_003311.2:p.Arg84Trp