Canonical Allele Identifier: CA449776778

Gene: TUBB

Linked Data

• dbSNP Id: rs2127749671
• gnomAD v4: 6-30723941-C-T
• MyVariant Identifiers: chr6:g.30691718C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723941C>T , CM000668.2:g.30723941C>T	GRCh38
NC_000006.11:g.30691718C>T , CM000668.1:g.30691718C>T	GRCh37
NC_000006.10:g.30799697C>T	NCBI36
NG_034142.1:g.8741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.879C>T MANE Select	ENSP00000339001.7:p.Val293=
ENST00000680530.1:n.1741C>T
ENST00000681421.1:n.1945C>T
ENST00000681435.1:c.663C>T	ENSP00000506665.1:p.Val221=
ENST00000327892.12:c.879C>T	ENSP00000339001.7:p.Val293=
ENST00000330914.7:c.663C>T	ENSP00000365578.2:p.Val221=
ENST00000396384.1:c.663C>T	ENSP00000379668.1:p.Val221=
ENST00000396389.5:c.825C>T	ENSP00000379672.1:p.Val275=
NM_001293212.1:c.939C>T	NP_001280141.1:p.Val313=
NM_001293213.1:c.370-97C>T	NP_001280142.1:n.370-97C>T
NM_001293214.1:c.747C>T	NP_001280143.1:p.Val249=
NM_001293215.1:c.663C>T	NP_001280144.1:p.Val221=
NM_001293216.1:c.663C>T	NP_001280145.1:p.Val221=
NM_178014.3:c.879C>T	NP_821133.1:p.Val293=
NR_120608.1:n.586C>T
NM_178014.4:c.879C>T MANE Select	NP_821133.1:p.Val293=
NM_001293212.2:c.939C>T	NP_001280141.1:p.Val313=
NM_001293213.2:c.370-97C>T	NP_001280142.1:n.370-97C>T
NM_001293214.2:c.747C>T	NP_001280143.1:p.Val249=
NM_001293215.2:c.663C>T	NP_001280144.1:p.Val221=
NM_001293216.2:c.663C>T	NP_001280145.1:p.Val221=
NR_120608.2:n.435C>T