Canonical Allele Identifier: CA9928574
Gene: TUBB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780078
ClinVar RCV Id: RCV003665501
dbSNP Id: rs148237574
ExAC: 20:57599224 G / A
gnomAD v2: 20-57599224-G-A
gnomAD v3: 20-59024169-G-A
gnomAD v4: 20-59024169-G-A
MyVariant Identifiers: chr20:g.57599224G>A (hg19) chr20:g.59024169G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024169G>A , CM000682.2:g.59024169G>A GRCh38
NC_000020.10:g.57599224G>A , CM000682.1:g.57599224G>A GRCh37
NC_000020.9:g.57032619G>A NCBI36
NG_023424.2:g.9916G>A , LRG_581:g.9916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.742G>A MANE Select ENSP00000217133.1:p.Ala248Thr
ENST00000217133.1:c.742G>A ENSP00000217133.1:p.Ala248Thr
NM_030773.3:c.742G>A , LRG_581t1:c.742G>A NP_110400.1:p.Ala248Thr
XM_017028085.1:c.676G>A XP_016883574.1:p.Ala226Thr
NM_030773.4:c.742G>A MANE Select NP_110400.1:p.Ala248Thr
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