Canonical Allele Identifier: CA9928581
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs767671019
ExAC: 20:57599256 C / T
gnomAD v2: 20-57599256-C-T
gnomAD v4: 20-59024201-C-T
MyVariant Identifiers: chr20:g.57599256C>T (hg19) chr20:g.59024201C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024201C>T , CM000682.2:g.59024201C>T GRCh38
NC_000020.10:g.57599256C>T , CM000682.1:g.57599256C>T GRCh37
NC_000020.9:g.57032651C>T NCBI36
NG_023424.2:g.9948C>T , LRG_581:g.9948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.774C>T MANE Select ENSP00000217133.1:p.Val258=
ENST00000217133.1:c.774C>T ENSP00000217133.1:p.Val258=
NM_030773.3:c.774C>T , LRG_581t1:c.774C>T NP_110400.1:p.Val258=
XM_017028085.1:c.708C>T XP_016883574.1:p.Val236=
NM_030773.4:c.774C>T MANE Select NP_110400.1:p.Val258=
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