Canonical Allele Identifier: CA363148914

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691704C>A (hg19) ; chr6:g.30723927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723927C>A , CM000668.2:g.30723927C>A	GRCh38
NC_000006.11:g.30691704C>A , CM000668.1:g.30691704C>A	GRCh37
NC_000006.10:g.30799683C>A	NCBI36
NG_034142.1:g.8727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.865C>A MANE Select	ENSP00000339001.7:p.Leu289Ile
ENST00000680530.1:n.1727C>A
ENST00000681421.1:n.1931C>A
ENST00000681435.1:c.649C>A	ENSP00000506665.1:p.Leu217Ile
ENST00000327892.12:c.865C>A	ENSP00000339001.7:p.Leu289Ile
ENST00000330914.7:c.649C>A	ENSP00000365578.2:p.Leu217Ile
ENST00000396384.1:c.649C>A	ENSP00000379668.1:p.Leu217Ile
ENST00000396389.5:c.811C>A	ENSP00000379672.1:p.Leu271Ile
NM_001293212.1:c.925C>A	NP_001280141.1:p.Leu309Ile
NM_001293213.1:c.370-111C>A	NP_001280142.1:n.370-111C>A
NM_001293214.1:c.733C>A	NP_001280143.1:p.Leu245Ile
NM_001293215.1:c.649C>A	NP_001280144.1:p.Leu217Ile
NM_001293216.1:c.649C>A	NP_001280145.1:p.Leu217Ile
NM_178014.3:c.865C>A	NP_821133.1:p.Leu289Ile
NR_120608.1:n.584-12C>A
NM_178014.4:c.865C>A MANE Select	NP_821133.1:p.Leu289Ile
NM_001293212.2:c.925C>A	NP_001280141.1:p.Leu309Ile
NM_001293213.2:c.370-111C>A	NP_001280142.1:n.370-111C>A
NM_001293214.2:c.733C>A	NP_001280143.1:p.Leu245Ile
NM_001293215.2:c.649C>A	NP_001280144.1:p.Leu217Ile
NM_001293216.2:c.649C>A	NP_001280145.1:p.Leu217Ile
NR_120608.2:n.433-12C>A