Canonical Allele Identifier: CA3703579

Gene: TUBB

Linked Data

• ClinVar Variation Id: 1219627
• ClinVar RCV Id: RCV001588716
• dbSNP Id: rs200599590
• ExAC: 6:30692096 C / G
• gnomAD v2: 6-30692096-C-G
• gnomAD v4: 6-30724319-C-G
• MyVariant Identifiers: chr6:g.30692096C>G (hg19) ; chr6:g.30724319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724319C>G , CM000668.2:g.30724319C>G	GRCh38
NC_000006.11:g.30692096C>G , CM000668.1:g.30692096C>G	GRCh37
NC_000006.10:g.30800075C>G	NCBI36
NG_034142.1:g.9119C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.1257C>G MANE Select	ENSP00000339001.7:p.Val419=
ENST00000680530.1:n.2119C>G
ENST00000681421.1:n.2323C>G
ENST00000681435.1:c.1041C>G	ENSP00000506665.1:p.Val347=
ENST00000327892.12:c.1257C>G	ENSP00000339001.7:p.Val419=
ENST00000330914.7:c.1041C>G	ENSP00000365578.2:p.Val347=
ENST00000396384.1:c.1041C>G	ENSP00000379668.1:p.Val347=
ENST00000396389.5:c.1203C>G	ENSP00000379672.1:p.Val401=
NM_001293212.1:c.1317C>G	NP_001280141.1:p.Val439=
NM_001293213.1:c.651C>G	NP_001280142.1:p.Val217=
NM_001293214.1:c.1125C>G	NP_001280143.1:p.Val375=
NM_001293215.1:c.1041C>G	NP_001280144.1:p.Val347=
NM_001293216.1:c.1041C>G	NP_001280145.1:p.Val347=
NM_178014.3:c.1257C>G	NP_821133.1:p.Val419=
NR_120608.1:n.964C>G
NM_178014.4:c.1257C>G MANE Select	NP_821133.1:p.Val419=
NM_001293212.2:c.1317C>G	NP_001280141.1:p.Val439=
NM_001293213.2:c.651C>G	NP_001280142.1:p.Val217=
NM_001293214.2:c.1125C>G	NP_001280143.1:p.Val375=
NM_001293215.2:c.1041C>G	NP_001280144.1:p.Val347=
NM_001293216.2:c.1041C>G	NP_001280145.1:p.Val347=
NR_120608.2:n.813C>G