×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA409468020
Gene: TUBB1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.57599443A>G (hg19)
chr20:g.59024388A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.59024388A>G , CM000682.2:g.59024388A>G
GRCh38
NC_000020.10:g.57599443A>G , CM000682.1:g.57599443A>G
GRCh37
NC_000020.9:g.57032838A>G
NCBI36
NG_023424.2:g.10135A>G , LRG_581:g.10135A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000217133.2:c.961A>G
MANE Select
ENSP00000217133.1:p.Met321Val
ENST00000217133.1:c.961A>G
ENSP00000217133.1:p.Met321Val
NM_030773.3:c.961A>G , LRG_581t1:c.961A>G
NP_110400.1:p.Met321Val
XM_017028085.1:c.895A>G
XP_016883574.1:p.Met299Val
NM_030773.4:c.961A>G
MANE Select
NP_110400.1:p.Met321Val
Search 100 bp 5'
Search 100 bp 3'