Canonical Allele Identifier: CA363148429

Gene: TUBB

Linked Data

• MyVariant Identifiers: chr6:g.30691593A>C (hg19) ; chr6:g.30723816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723816A>C , CM000668.2:g.30723816A>C	GRCh38
NC_000006.11:g.30691593A>C , CM000668.1:g.30691593A>C	GRCh37
NC_000006.10:g.30799572A>C	NCBI36
NG_034142.1:g.8616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.754A>C MANE Select	ENSP00000339001.7:p.Lys252Gln
ENST00000680530.1:n.1616A>C
ENST00000681421.1:n.1820A>C
ENST00000681435.1:c.538A>C	ENSP00000506665.1:p.Lys180Gln
ENST00000327892.12:c.754A>C	ENSP00000339001.7:p.Lys252Gln
ENST00000330914.7:c.538A>C	ENSP00000365578.2:p.Lys180Gln
ENST00000396384.1:c.538A>C	ENSP00000379668.1:p.Lys180Gln
ENST00000396389.5:c.700A>C	ENSP00000379672.1:p.Lys234Gln
NM_001293212.1:c.814A>C	NP_001280141.1:p.Lys272Gln
NM_001293213.1:c.370-222A>C	NP_001280142.1:n.370-222A>C
NM_001293214.1:c.622A>C	NP_001280143.1:p.Lys208Gln
NM_001293215.1:c.538A>C	NP_001280144.1:p.Lys180Gln
NM_001293216.1:c.538A>C	NP_001280145.1:p.Lys180Gln
NM_178014.3:c.754A>C	NP_821133.1:p.Lys252Gln
NR_120608.1:n.584-123A>C
NM_178014.4:c.754A>C MANE Select	NP_821133.1:p.Lys252Gln
NM_001293212.2:c.814A>C	NP_001280141.1:p.Lys272Gln
NM_001293213.2:c.370-222A>C	NP_001280142.1:n.370-222A>C
NM_001293214.2:c.622A>C	NP_001280143.1:p.Lys208Gln
NM_001293215.2:c.538A>C	NP_001280144.1:p.Lys180Gln
NM_001293216.2:c.538A>C	NP_001280145.1:p.Lys180Gln
NR_120608.2:n.433-123A>C