Canonical Allele Identifier: CA511316546
Gene: TUBB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2652453
ClinVar RCV Id: RCV003431384
MyVariant Identifiers: chr20:g.57599166A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024111A>G , CM000682.2:g.59024111A>G GRCh38
NC_000020.10:g.57599166A>G , CM000682.1:g.57599166A>G GRCh37
NC_000020.9:g.57032561A>G NCBI36
NG_023424.2:g.9858A>G , LRG_581:g.9858A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000217133.2:c.684A>G MANE Select ENSP00000217133.1:p.Leu228=
ENST00000217133.1:c.684A>G ENSP00000217133.1:p.Leu228=
NM_030773.3:c.684A>G , LRG_581t1:c.684A>G NP_110400.1:p.Leu228=
XM_017028085.1:c.618A>G XP_016883574.1:p.Leu206=
NM_030773.4:c.684A>G MANE Select NP_110400.1:p.Leu228=
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