Canonical Allele Identifier: CA511316420
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1343290455
gnomAD v2: 20-57599238-G-A
gnomAD v4: 20-59024183-G-A
MyVariant Identifiers: chr20:g.57599238G>A (hg19) chr20:g.59024183G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024183G>A , CM000682.2:g.59024183G>A GRCh38
NC_000020.10:g.57599238G>A , CM000682.1:g.57599238G>A GRCh37
NC_000020.9:g.57032633G>A NCBI36
NG_023424.2:g.9930G>A , LRG_581:g.9930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.756G>A MANE Select ENSP00000217133.1:p.Lys252=
ENST00000217133.1:c.756G>A ENSP00000217133.1:p.Lys252=
NM_030773.3:c.756G>A , LRG_581t1:c.756G>A NP_110400.1:p.Lys252=
XM_017028085.1:c.690G>A XP_016883574.1:p.Lys230=
NM_030773.4:c.756G>A MANE Select NP_110400.1:p.Lys252=
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