Canonical Allele Identifier: CA316329357
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs202095800
gnomAD v2: 20-57599252-T-C
gnomAD v3: 20-59024197-T-C
gnomAD v4: 20-59024197-T-C
COSMIC: COSM725017
MyVariant Identifiers: chr20:g.57599252T>C (hg19) chr20:g.59024197T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024197T>C , CM000682.2:g.59024197T>C GRCh38
NC_000020.10:g.57599252T>C , CM000682.1:g.57599252T>C GRCh37
NC_000020.9:g.57032647T>C NCBI36
NG_023424.2:g.9944T>C , LRG_581:g.9944T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.770T>C MANE Select ENSP00000217133.1:p.Met257Thr
ENST00000217133.1:c.770T>C ENSP00000217133.1:p.Met257Thr
NM_030773.3:c.770T>C , LRG_581t1:c.770T>C NP_110400.1:p.Met257Thr
XM_017028085.1:c.704T>C XP_016883574.1:p.Met235Thr
NM_030773.4:c.770T>C MANE Select NP_110400.1:p.Met257Thr
Search 100 bp 5'
Search 100 bp 3'