Canonical Allele Identifier: CA363149537

Gene: TUBB

Linked Data

• ClinVar Variation Id: 1172672
• ClinVar RCV Id: RCV001526664 ; RCV003154188
• dbSNP Id: rs2127749786
• MyVariant Identifiers: chr6:g.30691800A>G (hg19) ; chr6:g.30724023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724023A>G , CM000668.2:g.30724023A>G	GRCh38
NC_000006.11:g.30691800A>G , CM000668.1:g.30691800A>G	GRCh37
NC_000006.10:g.30799779A>G	NCBI36
NG_034142.1:g.8823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.961A>G MANE Select	ENSP00000339001.7:p.Met321Val
ENST00000680530.1:n.1823A>G
ENST00000681421.1:n.2027A>G
ENST00000681435.1:c.745A>G	ENSP00000506665.1:p.Met249Val
ENST00000327892.12:c.961A>G	ENSP00000339001.7:p.Met321Val
ENST00000330914.7:c.745A>G	ENSP00000365578.2:p.Met249Val
ENST00000396384.1:c.745A>G	ENSP00000379668.1:p.Met249Val
ENST00000396389.5:c.907A>G	ENSP00000379672.1:p.Met303Val
NM_001293212.1:c.1021A>G	NP_001280141.1:p.Met341Val
NM_001293213.1:c.370-15A>G	NP_001280142.1:n.370-15A>G
NM_001293214.1:c.829A>G	NP_001280143.1:p.Met277Val
NM_001293215.1:c.745A>G	NP_001280144.1:p.Met249Val
NM_001293216.1:c.745A>G	NP_001280145.1:p.Met249Val
NM_178014.3:c.961A>G	NP_821133.1:p.Met321Val
NR_120608.1:n.668A>G
NM_178014.4:c.961A>G MANE Select	NP_821133.1:p.Met321Val
NM_001293212.2:c.1021A>G	NP_001280141.1:p.Met341Val
NM_001293213.2:c.370-15A>G	NP_001280142.1:n.370-15A>G
NM_001293214.2:c.829A>G	NP_001280143.1:p.Met277Val
NM_001293215.2:c.745A>G	NP_001280144.1:p.Met249Val
NM_001293216.2:c.745A>G	NP_001280145.1:p.Met249Val
NR_120608.2:n.517A>G