Canonical Allele Identifier: CA217415545

Gene: TUB

Linked Data

• dbSNP Id: rs772509519
• gnomAD v2: 11-8111649-C-T
• gnomAD v4: 11-8090102-C-T
• MyVariant Identifiers: chr11:g.8111649C>T (hg19) ; chr11:g.8090102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090102C>T , CM000673.2:g.8090102C>T	GRCh38
NC_000011.9:g.8111649C>T , CM000673.1:g.8111649C>T	GRCh37
NC_000011.8:g.8068225C>T	NCBI36
NG_029912.1:g.56470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.124C>T MANE Select	ENSP00000299506.3:p.Arg42Cys
ENST00000299506.2:c.124C>T	ENSP00000299506.2:p.Arg42Cys
ENST00000305253.8:c.289C>T	ENSP00000305426.4:p.Arg97Cys
ENST00000534099.5:c.142C>T	ENSP00000434400.1:p.Arg48Cys
NM_003320.4:c.289C>T	NP_003311.2:p.Arg97Cys
NM_177972.2:c.124C>T	NP_813977.1:p.Arg42Cys
XM_005253109.2:c.250C>T	XP_005253166.1:p.Arg84Cys
XM_011520344.1:c.160C>T	XP_011518646.1:p.Arg54Cys
XM_005253109.3:c.250C>T	XP_005253166.1:p.Arg84Cys
XM_011520344.2:c.160C>T	XP_011518646.1:p.Arg54Cys
NM_177972.3:c.124C>T MANE Select	NP_813977.1:p.Arg42Cys
NM_003320.5:c.289C>T	NP_003311.2:p.Arg97Cys