Canonical Allele Identifier: CA363149608

Gene: TUBB

Linked Data

• ClinVar Variation Id: 2442458
• ClinVar RCV Id: RCV003149230
• MyVariant Identifiers: chr6:g.30691807T>C (hg19) ; chr6:g.30724030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724030T>C , CM000668.2:g.30724030T>C	GRCh38
NC_000006.11:g.30691807T>C , CM000668.1:g.30691807T>C	GRCh37
NC_000006.10:g.30799786T>C	NCBI36
NG_034142.1:g.8830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.968T>C MANE Select	ENSP00000339001.7:p.Met323Thr
ENST00000680530.1:n.1830T>C
ENST00000681421.1:n.2034T>C
ENST00000681435.1:c.752T>C	ENSP00000506665.1:p.Met251Thr
ENST00000327892.12:c.968T>C	ENSP00000339001.7:p.Met323Thr
ENST00000330914.7:c.752T>C	ENSP00000365578.2:p.Met251Thr
ENST00000396384.1:c.752T>C	ENSP00000379668.1:p.Met251Thr
ENST00000396389.5:c.914T>C	ENSP00000379672.1:p.Met305Thr
NM_001293212.1:c.1028T>C	NP_001280141.1:p.Met343Thr
NM_001293213.1:c.370-8T>C	NP_001280142.1:n.370-8T>C
NM_001293214.1:c.836T>C	NP_001280143.1:p.Met279Thr
NM_001293215.1:c.752T>C	NP_001280144.1:p.Met251Thr
NM_001293216.1:c.752T>C	NP_001280145.1:p.Met251Thr
NM_178014.3:c.968T>C	NP_821133.1:p.Met323Thr
NR_120608.1:n.675T>C
NM_178014.4:c.968T>C MANE Select	NP_821133.1:p.Met323Thr
NM_001293212.2:c.1028T>C	NP_001280141.1:p.Met343Thr
NM_001293213.2:c.370-8T>C	NP_001280142.1:n.370-8T>C
NM_001293214.2:c.836T>C	NP_001280143.1:p.Met279Thr
NM_001293215.2:c.752T>C	NP_001280144.1:p.Met251Thr
NM_001293216.2:c.752T>C	NP_001280145.1:p.Met251Thr
NR_120608.2:n.524T>C