Canonical Allele Identifier: CA9928600
Gene: TUBB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2716637
ClinVar RCV Id: RCV003548435
dbSNP Id: rs370149968
ExAC: 20:57599338 G / A
gnomAD v2: 20-57599338-G-A
gnomAD v3: 20-59024283-G-A
gnomAD v4: 20-59024283-G-A
MyVariant Identifiers: chr20:g.57599338G>A (hg19) chr20:g.59024283G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024283G>A , CM000682.2:g.59024283G>A GRCh38
NC_000020.10:g.57599338G>A , CM000682.1:g.57599338G>A GRCh37
NC_000020.9:g.57032733G>A NCBI36
NG_023424.2:g.10030G>A , LRG_581:g.10030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217133.2:c.856G>A MANE Select ENSP00000217133.1:p.Val286Met
ENST00000217133.1:c.856G>A ENSP00000217133.1:p.Val286Met
NM_030773.3:c.856G>A , LRG_581t1:c.856G>A NP_110400.1:p.Val286Met
XM_017028085.1:c.790G>A XP_016883574.1:p.Val264Met
NM_030773.4:c.856G>A MANE Select NP_110400.1:p.Val286Met
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