Canonical Allele Identifier: CA363149065

Gene: TUBB

Linked Data

• ClinVar Variation Id: 1338518
• ClinVar RCV Id: RCV001817889
• dbSNP Id: rs2127749712
• MyVariant Identifiers: chr6:g.30691736G>A (hg19) ; chr6:g.30723959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723959G>A , CM000668.2:g.30723959G>A	GRCh38
NC_000006.11:g.30691736G>A , CM000668.1:g.30691736G>A	GRCh37
NC_000006.10:g.30799715G>A	NCBI36
NG_034142.1:g.8759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.897G>A MANE Select	ENSP00000339001.7:p.Met299Ile
ENST00000680530.1:n.1759G>A
ENST00000681421.1:n.1963G>A
ENST00000681435.1:c.681G>A	ENSP00000506665.1:p.Met227Ile
ENST00000327892.12:c.897G>A	ENSP00000339001.7:p.Met299Ile
ENST00000330914.7:c.681G>A	ENSP00000365578.2:p.Met227Ile
ENST00000396384.1:c.681G>A	ENSP00000379668.1:p.Met227Ile
ENST00000396389.5:c.843G>A	ENSP00000379672.1:p.Met281Ile
NM_001293212.1:c.957G>A	NP_001280141.1:p.Met319Ile
NM_001293213.1:c.370-79G>A	NP_001280142.1:n.370-79G>A
NM_001293214.1:c.765G>A	NP_001280143.1:p.Met255Ile
NM_001293215.1:c.681G>A	NP_001280144.1:p.Met227Ile
NM_001293216.1:c.681G>A	NP_001280145.1:p.Met227Ile
NM_178014.3:c.897G>A	NP_821133.1:p.Met299Ile
NR_120608.1:n.604G>A
NM_178014.4:c.897G>A MANE Select	NP_821133.1:p.Met299Ile
NM_001293212.2:c.957G>A	NP_001280141.1:p.Met319Ile
NM_001293213.2:c.370-79G>A	NP_001280142.1:n.370-79G>A
NM_001293214.2:c.765G>A	NP_001280143.1:p.Met255Ile
NM_001293215.2:c.681G>A	NP_001280144.1:p.Met227Ile
NM_001293216.2:c.681G>A	NP_001280145.1:p.Met227Ile
NR_120608.2:n.453G>A