Canonical Allele Identifier: CA5870967

Gene: TUB

Linked Data

• ClinVar Variation Id: 966216
• ClinVar RCV Id: RCV001240838 ; RCV003908461
• dbSNP Id: rs533066502
• ExAC: 11:8111646 A / C
• gnomAD v2: 11-8111646-A-C
• gnomAD v3: 11-8090099-A-C
• gnomAD v4: 11-8090099-A-C
• COSMIC: COSM4574828
• MyVariant Identifiers: chr11:g.8111646A>C (hg19) ; chr11:g.8090099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090099A>C , CM000673.2:g.8090099A>C	GRCh38
NC_000011.9:g.8111646A>C , CM000673.1:g.8111646A>C	GRCh37
NC_000011.8:g.8068222A>C	NCBI36
NG_029912.1:g.56467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.121A>C MANE Select	ENSP00000299506.3:p.Lys41Gln
ENST00000299506.2:c.121A>C	ENSP00000299506.2:p.Lys41Gln
ENST00000305253.8:c.286A>C	ENSP00000305426.4:p.Lys96Gln
ENST00000534099.5:c.139A>C	ENSP00000434400.1:p.Lys47Gln
NM_003320.4:c.286A>C	NP_003311.2:p.Lys96Gln
NM_177972.2:c.121A>C	NP_813977.1:p.Lys41Gln
XM_005253109.2:c.247A>C	XP_005253166.1:p.Lys83Gln
XM_011520344.1:c.157A>C	XP_011518646.1:p.Lys53Gln
XM_005253109.3:c.247A>C	XP_005253166.1:p.Lys83Gln
XM_011520344.2:c.157A>C	XP_011518646.1:p.Lys53Gln
NM_177972.3:c.121A>C MANE Select	NP_813977.1:p.Lys41Gln
NM_003320.5:c.286A>C	NP_003311.2:p.Lys96Gln