Canonical Allele Identifier: CA363149706
Community Standard Title: NM_178014.4(TUBB):c.979G>A (p.Asp327Asn)
Gene: TUBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30724041G>A , CM000668.2:g.30724041G>A GRCh38
NC_000006.11:g.30691818G>A , CM000668.1:g.30691818G>A GRCh37
NC_000006.10:g.30799797G>A NCBI36
NG_034142.1:g.8841G>A

Transcript Alleles

HGVS Amino-acid Change
NM_178014.4:c.979G>A MANE Select NP_821133.1:p.Asp327Asn
ENST00000327892.13:c.979G>A MANE Select ENSP00000339001.7:p.Asp327Asn
NM_001293212.1:c.1039G>A NP_001280141.1:p.Asp347Asn
NM_001293212.2:c.1039G>A NP_001280141.1:p.Asp347Asn
NM_001293213.1:c.373G>A NP_001280142.1:p.Asp125Asn
NM_001293213.2:c.373G>A NP_001280142.1:p.Asp125Asn
NM_001293214.1:c.847G>A NP_001280143.1:p.Asp283Asn
NM_001293214.2:c.847G>A NP_001280143.1:p.Asp283Asn
NM_001293215.1:c.763G>A NP_001280144.1:p.Asp255Asn
NM_001293215.2:c.763G>A NP_001280144.1:p.Asp255Asn
NM_001293216.1:c.763G>A NP_001280145.1:p.Asp255Asn
NM_001293216.2:c.763G>A NP_001280145.1:p.Asp255Asn
NM_178014.3:c.979G>A NP_821133.1:p.Asp327Asn
NR_120608.1:n.686G>A
NR_120608.2:n.535G>A
ENST00000327892.12:c.979G>A ENSP00000339001.7:p.Asp327Asn
ENST00000330914.7:c.763G>A ENSP00000365578.2:p.Asp255Asn
ENST00000396384.1:c.763G>A ENSP00000379668.1:p.Asp255Asn
ENST00000396389.5:c.925G>A ENSP00000379672.1:p.Asp309Asn
ENST00000680530.1:n.1841G>A
ENST00000681421.1:n.2045G>A
ENST00000681435.1:c.763G>A ENSP00000506665.1:p.Asp255Asn