Canonical Allele Identifier: CA449776819

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723968-C-T
• MyVariant Identifiers: chr6:g.30691745C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723968C>T , CM000668.2:g.30723968C>T	GRCh38
NC_000006.11:g.30691745C>T , CM000668.1:g.30691745C>T	GRCh37
NC_000006.10:g.30799724C>T	NCBI36
NG_034142.1:g.8768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.906C>T MANE Select	ENSP00000339001.7:p.Ala302=
ENST00000680530.1:n.1768C>T
ENST00000681421.1:n.1972C>T
ENST00000681435.1:c.690C>T	ENSP00000506665.1:p.Ala230=
ENST00000327892.12:c.906C>T	ENSP00000339001.7:p.Ala302=
ENST00000330914.7:c.690C>T	ENSP00000365578.2:p.Ala230=
ENST00000396384.1:c.690C>T	ENSP00000379668.1:p.Ala230=
ENST00000396389.5:c.852C>T	ENSP00000379672.1:p.Ala284=
NM_001293212.1:c.966C>T	NP_001280141.1:p.Ala322=
NM_001293213.1:c.370-70C>T	NP_001280142.1:n.370-70C>T
NM_001293214.1:c.774C>T	NP_001280143.1:p.Ala258=
NM_001293215.1:c.690C>T	NP_001280144.1:p.Ala230=
NM_001293216.1:c.690C>T	NP_001280145.1:p.Ala230=
NM_178014.3:c.906C>T	NP_821133.1:p.Ala302=
NR_120608.1:n.613C>T
NM_178014.4:c.906C>T MANE Select	NP_821133.1:p.Ala302=
NM_001293212.2:c.966C>T	NP_001280141.1:p.Ala322=
NM_001293213.2:c.370-70C>T	NP_001280142.1:n.370-70C>T
NM_001293214.2:c.774C>T	NP_001280143.1:p.Ala258=
NM_001293215.2:c.690C>T	NP_001280144.1:p.Ala230=
NM_001293216.2:c.690C>T	NP_001280145.1:p.Ala230=
NR_120608.2:n.462C>T