Canonical Allele Identifier: CA449776830

Gene: TUBB

Linked Data

• dbSNP Id: rs1179974971
• gnomAD v4: 6-30723977-C-T
• MyVariant Identifiers: chr6:g.30691754C>T (hg19) ; chr6:g.30723977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723977C>T , CM000668.2:g.30723977C>T	GRCh38
NC_000006.11:g.30691754C>T , CM000668.1:g.30691754C>T	GRCh37
NC_000006.10:g.30799733C>T	NCBI36
NG_034142.1:g.8777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.915C>T MANE Select	ENSP00000339001.7:p.Pro305=
ENST00000680530.1:n.1777C>T
ENST00000681421.1:n.1981C>T
ENST00000681435.1:c.699C>T	ENSP00000506665.1:p.Pro233=
ENST00000327892.12:c.915C>T	ENSP00000339001.7:p.Pro305=
ENST00000330914.7:c.699C>T	ENSP00000365578.2:p.Pro233=
ENST00000396384.1:c.699C>T	ENSP00000379668.1:p.Pro233=
ENST00000396389.5:c.861C>T	ENSP00000379672.1:p.Pro287=
NM_001293212.1:c.975C>T	NP_001280141.1:p.Pro325=
NM_001293213.1:c.370-61C>T	NP_001280142.1:n.370-61C>T
NM_001293214.1:c.783C>T	NP_001280143.1:p.Pro261=
NM_001293215.1:c.699C>T	NP_001280144.1:p.Pro233=
NM_001293216.1:c.699C>T	NP_001280145.1:p.Pro233=
NM_178014.3:c.915C>T	NP_821133.1:p.Pro305=
NR_120608.1:n.622C>T
NM_178014.4:c.915C>T MANE Select	NP_821133.1:p.Pro305=
NM_001293212.2:c.975C>T	NP_001280141.1:p.Pro325=
NM_001293213.2:c.370-61C>T	NP_001280142.1:n.370-61C>T
NM_001293214.2:c.783C>T	NP_001280143.1:p.Pro261=
NM_001293215.2:c.699C>T	NP_001280144.1:p.Pro233=
NM_001293216.2:c.699C>T	NP_001280145.1:p.Pro233=
NR_120608.2:n.471C>T