Canonical Allele Identifier: CA379562410

Gene: TUB

Linked Data

• ClinVar Variation Id: 1716402
• ClinVar RCV Id: RCV002303465
• MyVariant Identifiers: chr11:g.8111197C>T (hg19) ; chr11:g.8089650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089650C>T , CM000673.2:g.8089650C>T	GRCh38
NC_000011.9:g.8111197C>T , CM000673.1:g.8111197C>T	GRCh37
NC_000011.8:g.8067773C>T	NCBI36
NG_029912.1:g.56018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.79C>T MANE Select	ENSP00000299506.3:p.Leu27Phe
ENST00000299506.2:c.79C>T	ENSP00000299506.2:p.Leu27Phe
ENST00000305253.8:c.244C>T	ENSP00000305426.4:p.Leu82Phe
ENST00000534099.5:c.97C>T	ENSP00000434400.1:p.Leu33Phe
NM_003320.4:c.244C>T	NP_003311.2:p.Leu82Phe
NM_177972.2:c.79C>T	NP_813977.1:p.Leu27Phe
XM_005253109.2:c.205C>T	XP_005253166.1:p.Leu69Phe
XM_011520344.1:c.115C>T	XP_011518646.1:p.Leu39Phe
XM_005253109.3:c.205C>T	XP_005253166.1:p.Leu69Phe
XM_011520344.2:c.115C>T	XP_011518646.1:p.Leu39Phe
NM_177972.3:c.79C>T MANE Select	NP_813977.1:p.Leu27Phe
NM_003320.5:c.244C>T	NP_003311.2:p.Leu82Phe