Canonical Allele Identifier: CA379562672

Gene: TUB

Linked Data

• dbSNP Id: rs202068881
• gnomAD v4: 11-8090103-G-T
• MyVariant Identifiers: chr11:g.8111650G>T (hg19) ; chr11:g.8090103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090103G>T , CM000673.2:g.8090103G>T	GRCh38
NC_000011.9:g.8111650G>T , CM000673.1:g.8111650G>T	GRCh37
NC_000011.8:g.8068226G>T	NCBI36
NG_029912.1:g.56471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.125G>T MANE Select	ENSP00000299506.3:p.Arg42Leu
ENST00000299506.2:c.125G>T	ENSP00000299506.2:p.Arg42Leu
ENST00000305253.8:c.290G>T	ENSP00000305426.4:p.Arg97Leu
ENST00000534099.5:c.143G>T	ENSP00000434400.1:p.Arg48Leu
NM_003320.4:c.290G>T	NP_003311.2:p.Arg97Leu
NM_177972.2:c.125G>T	NP_813977.1:p.Arg42Leu
XM_005253109.2:c.251G>T	XP_005253166.1:p.Arg84Leu
XM_011520344.1:c.161G>T	XP_011518646.1:p.Arg54Leu
XM_005253109.3:c.251G>T	XP_005253166.1:p.Arg84Leu
XM_011520344.2:c.161G>T	XP_011518646.1:p.Arg54Leu
NM_177972.3:c.125G>T MANE Select	NP_813977.1:p.Arg42Leu
NM_003320.5:c.290G>T	NP_003311.2:p.Arg97Leu