Canonical Allele Identifier: CA511316390
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1387039834
gnomAD v3: 20-59024015-A-G
gnomAD v4: 20-59024015-A-G
MyVariant Identifiers: chr20:g.57599070A>G (hg19) chr20:g.59024015A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024015A>G , CM000682.2:g.59024015A>G GRCh38
NC_000020.10:g.57599070A>G , CM000682.1:g.57599070A>G GRCh37
NC_000020.9:g.57032465A>G NCBI36
NG_023424.2:g.9762A>G , LRG_581:g.9762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.588A>G MANE Select ENSP00000217133.1:p.Ala196=
ENST00000217133.1:c.588A>G ENSP00000217133.1:p.Ala196=
NM_030773.3:c.588A>G , LRG_581t1:c.588A>G NP_110400.1:p.Ala196=
XM_017028085.1:c.522A>G XP_016883574.1:p.Ala174=
NM_030773.4:c.588A>G MANE Select NP_110400.1:p.Ala196=
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