Canonical Allele Identifier: CA449776493

Gene: TUBB

Linked Data

• dbSNP Id: rs1183553645
• gnomAD v2: 6-30691577-C-G
• gnomAD v4: 6-30723800-C-G
• MyVariant Identifiers: chr6:g.30691577C>G (hg19) ; chr6:g.30723800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723800C>G , CM000668.2:g.30723800C>G	GRCh38
NC_000006.11:g.30691577C>G , CM000668.1:g.30691577C>G	GRCh37
NC_000006.10:g.30799556C>G	NCBI36
NG_034142.1:g.8600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.738C>G MANE Select	ENSP00000339001.7:p.Leu246=
ENST00000680530.1:n.1600C>G
ENST00000681421.1:n.1804C>G
ENST00000681435.1:c.522C>G	ENSP00000506665.1:p.Leu174=
ENST00000327892.12:c.738C>G	ENSP00000339001.7:p.Leu246=
ENST00000330914.7:c.522C>G	ENSP00000365578.2:p.Leu174=
ENST00000396384.1:c.522C>G	ENSP00000379668.1:p.Leu174=
ENST00000396389.5:c.684C>G	ENSP00000379672.1:p.Leu228=
NM_001293212.1:c.798C>G	NP_001280141.1:p.Leu266=
NM_001293213.1:c.370-238C>G	NP_001280142.1:n.370-238C>G
NM_001293214.1:c.606C>G	NP_001280143.1:p.Leu202=
NM_001293215.1:c.522C>G	NP_001280144.1:p.Leu174=
NM_001293216.1:c.522C>G	NP_001280145.1:p.Leu174=
NM_178014.3:c.738C>G	NP_821133.1:p.Leu246=
NR_120608.1:n.584-139C>G
NM_178014.4:c.738C>G MANE Select	NP_821133.1:p.Leu246=
NM_001293212.2:c.798C>G	NP_001280141.1:p.Leu266=
NM_001293213.2:c.370-238C>G	NP_001280142.1:n.370-238C>G
NM_001293214.2:c.606C>G	NP_001280143.1:p.Leu202=
NM_001293215.2:c.522C>G	NP_001280144.1:p.Leu174=
NM_001293216.2:c.522C>G	NP_001280145.1:p.Leu174=
NR_120608.2:n.433-139C>G