Canonical Allele Identifier: CA5870981

Gene: TUB

Linked Data

• ClinVar Variation Id: 1364764
• ClinVar RCV Id: RCV001907677
• dbSNP Id: rs141872276
• ExAC: 11:8111695 G / A
• gnomAD v2: 11-8111695-G-A
• gnomAD v3: 11-8090148-G-A
• gnomAD v4: 11-8090148-G-A
• MyVariant Identifiers: chr11:g.8111695G>A (hg19) ; chr11:g.8090148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090148G>A , CM000673.2:g.8090148G>A	GRCh38
NC_000011.9:g.8111695G>A , CM000673.1:g.8111695G>A	GRCh37
NC_000011.8:g.8068271G>A	NCBI36
NG_029912.1:g.56516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.170G>A MANE Select	ENSP00000299506.3:p.Arg57Gln
ENST00000299506.2:c.170G>A	ENSP00000299506.2:p.Arg57Gln
ENST00000305253.8:c.335G>A	ENSP00000305426.4:p.Arg112Gln
ENST00000534099.5:c.188G>A	ENSP00000434400.1:p.Arg63Gln
NM_003320.4:c.335G>A	NP_003311.2:p.Arg112Gln
NM_177972.2:c.170G>A	NP_813977.1:p.Arg57Gln
XM_005253109.2:c.296G>A	XP_005253166.1:p.Arg99Gln
XM_011520344.1:c.206G>A	XP_011518646.1:p.Arg69Gln
XM_005253109.3:c.296G>A	XP_005253166.1:p.Arg99Gln
XM_011520344.2:c.206G>A	XP_011518646.1:p.Arg69Gln
NM_177972.3:c.170G>A MANE Select	NP_813977.1:p.Arg57Gln
NM_003320.5:c.335G>A	NP_003311.2:p.Arg112Gln