Canonical Allele Identifier: CA511316419
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1299447164
gnomAD v2: 20-57599235-C-A
gnomAD v4: 20-59024180-C-A
MyVariant Identifiers: chr20:g.57599235C>A (hg19) chr20:g.59024180C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024180C>A , CM000682.2:g.59024180C>A GRCh38
NC_000020.10:g.57599235C>A , CM000682.1:g.57599235C>A GRCh37
NC_000020.9:g.57032630C>A NCBI36
NG_023424.2:g.9927C>A , LRG_581:g.9927C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.753C>A MANE Select ENSP00000217133.1:p.Arg251=
ENST00000217133.1:c.753C>A ENSP00000217133.1:p.Arg251=
NM_030773.3:c.753C>A , LRG_581t1:c.753C>A NP_110400.1:p.Arg251=
XM_017028085.1:c.687C>A XP_016883574.1:p.Arg229=
NM_030773.4:c.753C>A MANE Select NP_110400.1:p.Arg251=
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