Canonical Allele Identifier: CA449776877

Gene: TUBB

Linked Data

• gnomAD v4: 6-30724010-C-T
• MyVariant Identifiers: chr6:g.30691787C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724010C>T , CM000668.2:g.30724010C>T	GRCh38
NC_000006.11:g.30691787C>T , CM000668.1:g.30691787C>T	GRCh37
NC_000006.10:g.30799766C>T	NCBI36
NG_034142.1:g.8810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.948C>T MANE Select	ENSP00000339001.7:p.Val316=
ENST00000680530.1:n.1810C>T
ENST00000681421.1:n.2014C>T
ENST00000681435.1:c.732C>T	ENSP00000506665.1:p.Val244=
ENST00000327892.12:c.948C>T	ENSP00000339001.7:p.Val316=
ENST00000330914.7:c.732C>T	ENSP00000365578.2:p.Val244=
ENST00000396384.1:c.732C>T	ENSP00000379668.1:p.Val244=
ENST00000396389.5:c.894C>T	ENSP00000379672.1:p.Val298=
NM_001293212.1:c.1008C>T	NP_001280141.1:p.Val336=
NM_001293213.1:c.370-28C>T	NP_001280142.1:n.370-28C>T
NM_001293214.1:c.816C>T	NP_001280143.1:p.Val272=
NM_001293215.1:c.732C>T	NP_001280144.1:p.Val244=
NM_001293216.1:c.732C>T	NP_001280145.1:p.Val244=
NM_178014.3:c.948C>T	NP_821133.1:p.Val316=
NR_120608.1:n.655C>T
NM_178014.4:c.948C>T MANE Select	NP_821133.1:p.Val316=
NM_001293212.2:c.1008C>T	NP_001280141.1:p.Val336=
NM_001293213.2:c.370-28C>T	NP_001280142.1:n.370-28C>T
NM_001293214.2:c.816C>T	NP_001280143.1:p.Val272=
NM_001293215.2:c.732C>T	NP_001280144.1:p.Val244=
NM_001293216.2:c.732C>T	NP_001280145.1:p.Val244=
NR_120608.2:n.504C>T