Canonical Allele Identifier: CA5870988

Gene: TUB

Linked Data

• ClinVar Variation Id: 1494002
• ClinVar RCV Id: RCV001986902
• dbSNP Id: rs533484598
• ExAC: 11:8111710 G / T
• gnomAD v2: 11-8111710-G-T
• gnomAD v3: 11-8090163-G-T
• gnomAD v4: 11-8090163-G-T
• MyVariant Identifiers: chr11:g.8111710G>T (hg19) ; chr11:g.8090163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090163G>T , CM000673.2:g.8090163G>T	GRCh38
NC_000011.9:g.8111710G>T , CM000673.1:g.8111710G>T	GRCh37
NC_000011.8:g.8068286G>T	NCBI36
NG_029912.1:g.56531G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.185G>T MANE Select	ENSP00000299506.3:p.Arg62Leu
ENST00000299506.2:c.185G>T	ENSP00000299506.2:p.Arg62Leu
ENST00000305253.8:c.350G>T	ENSP00000305426.4:p.Arg117Leu
ENST00000534099.5:c.203G>T	ENSP00000434400.1:p.Arg68Leu
NM_003320.4:c.350G>T	NP_003311.2:p.Arg117Leu
NM_177972.2:c.185G>T	NP_813977.1:p.Arg62Leu
XM_005253109.2:c.311G>T	XP_005253166.1:p.Arg104Leu
XM_011520344.1:c.221G>T	XP_011518646.1:p.Arg74Leu
XM_005253109.3:c.311G>T	XP_005253166.1:p.Arg104Leu
XM_011520344.2:c.221G>T	XP_011518646.1:p.Arg74Leu
NM_177972.3:c.185G>T MANE Select	NP_813977.1:p.Arg62Leu
NM_003320.5:c.350G>T	NP_003311.2:p.Arg117Leu