Canonical Allele Identifier: CA449776749

Gene: TUBB

Linked Data

• dbSNP Id: rs1481217887
• gnomAD v3: 6-30723920-G-T
• gnomAD v4: 6-30723920-G-T
• MyVariant Identifiers: chr6:g.30691697G>T (hg19) ; chr6:g.30723920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723920G>T , CM000668.2:g.30723920G>T	GRCh38
NC_000006.11:g.30691697G>T , CM000668.1:g.30691697G>T	GRCh37
NC_000006.10:g.30799676G>T	NCBI36
NG_034142.1:g.8720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.858G>T MANE Select	ENSP00000339001.7:p.Val286=
ENST00000680530.1:n.1720G>T
ENST00000681421.1:n.1924G>T
ENST00000681435.1:c.642G>T	ENSP00000506665.1:p.Val214=
ENST00000327892.12:c.858G>T	ENSP00000339001.7:p.Val286=
ENST00000330914.7:c.642G>T	ENSP00000365578.2:p.Val214=
ENST00000396384.1:c.642G>T	ENSP00000379668.1:p.Val214=
ENST00000396389.5:c.804G>T	ENSP00000379672.1:p.Val268=
NM_001293212.1:c.918G>T	NP_001280141.1:p.Val306=
NM_001293213.1:c.370-118G>T	NP_001280142.1:n.370-118G>T
NM_001293214.1:c.726G>T	NP_001280143.1:p.Val242=
NM_001293215.1:c.642G>T	NP_001280144.1:p.Val214=
NM_001293216.1:c.642G>T	NP_001280145.1:p.Val214=
NM_178014.3:c.858G>T	NP_821133.1:p.Val286=
NR_120608.1:n.584-19G>T
NM_178014.4:c.858G>T MANE Select	NP_821133.1:p.Val286=
NM_001293212.2:c.918G>T	NP_001280141.1:p.Val306=
NM_001293213.2:c.370-118G>T	NP_001280142.1:n.370-118G>T
NM_001293214.2:c.726G>T	NP_001280143.1:p.Val242=
NM_001293215.2:c.642G>T	NP_001280144.1:p.Val214=
NM_001293216.2:c.642G>T	NP_001280145.1:p.Val214=
NR_120608.2:n.433-19G>T