Canonical Allele Identifier: CA379562942

Gene: TUB

Linked Data

• gnomAD v4: 11-8090169-C-T
• MyVariant Identifiers: chr11:g.8111716C>T (hg19) ; chr11:g.8090169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090169C>T , CM000673.2:g.8090169C>T	GRCh38
NC_000011.9:g.8111716C>T , CM000673.1:g.8111716C>T	GRCh37
NC_000011.8:g.8068292C>T	NCBI36
NG_029912.1:g.56537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.191C>T MANE Select	ENSP00000299506.3:p.Ser64Leu
ENST00000299506.2:c.191C>T	ENSP00000299506.2:p.Ser64Leu
ENST00000305253.8:c.356C>T	ENSP00000305426.4:p.Ser119Leu
ENST00000534099.5:c.209C>T	ENSP00000434400.1:p.Ser70Leu
NM_003320.4:c.356C>T	NP_003311.2:p.Ser119Leu
NM_177972.2:c.191C>T	NP_813977.1:p.Ser64Leu
XM_005253109.2:c.317C>T	XP_005253166.1:p.Ser106Leu
XM_011520344.1:c.227C>T	XP_011518646.1:p.Ser76Leu
XM_005253109.3:c.317C>T	XP_005253166.1:p.Ser106Leu
XM_011520344.2:c.227C>T	XP_011518646.1:p.Ser76Leu
NM_177972.3:c.191C>T MANE Select	NP_813977.1:p.Ser64Leu
NM_003320.5:c.356C>T	NP_003311.2:p.Ser119Leu