Canonical Allele Identifier: CA363148899

Gene: TUBB

Linked Data

• ClinVar Variation Id: 438586
• ClinVar RCV Id: RCV000657977 ; RCV000656087 ; RCV001291303 ; RCV003147489 ; RCV004551640
• dbSNP Id: rs1554202416
• MyVariant Identifiers: chr6:g.30691699C>T (hg19) ; chr6:g.30723922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723922C>T , CM000668.2:g.30723922C>T	GRCh38
NC_000006.11:g.30691699C>T , CM000668.1:g.30691699C>T	GRCh37
NC_000006.10:g.30799678C>T	NCBI36
NG_034142.1:g.8722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.860C>T MANE Select	ENSP00000339001.7:p.Pro287Leu
ENST00000680530.1:n.1722C>T
ENST00000681421.1:n.1926C>T
ENST00000681435.1:c.644C>T	ENSP00000506665.1:p.Pro215Leu
ENST00000327892.12:c.860C>T	ENSP00000339001.7:p.Pro287Leu
ENST00000330914.7:c.644C>T	ENSP00000365578.2:p.Pro215Leu
ENST00000396384.1:c.644C>T	ENSP00000379668.1:p.Pro215Leu
ENST00000396389.5:c.806C>T	ENSP00000379672.1:p.Pro269Leu
NM_001293212.1:c.920C>T	NP_001280141.1:p.Pro307Leu
NM_001293213.1:c.370-116C>T	NP_001280142.1:n.370-116C>T
NM_001293214.1:c.728C>T	NP_001280143.1:p.Pro243Leu
NM_001293215.1:c.644C>T	NP_001280144.1:p.Pro215Leu
NM_001293216.1:c.644C>T	NP_001280145.1:p.Pro215Leu
NM_178014.3:c.860C>T	NP_821133.1:p.Pro287Leu
NR_120608.1:n.584-17C>T
NM_178014.4:c.860C>T MANE Select	NP_821133.1:p.Pro287Leu
NM_001293212.2:c.920C>T	NP_001280141.1:p.Pro307Leu
NM_001293213.2:c.370-116C>T	NP_001280142.1:n.370-116C>T
NM_001293214.2:c.728C>T	NP_001280143.1:p.Pro243Leu
NM_001293215.2:c.644C>T	NP_001280144.1:p.Pro215Leu
NM_001293216.2:c.644C>T	NP_001280145.1:p.Pro215Leu
NR_120608.2:n.433-17C>T