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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
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Canonical Allele Identifier:
CA376170166
Gene: CUBN
HGNC
NCBI
Linked Data
gnomAD v4:
10-17129764-A-G
MyVariant Identifiers:
chr10:g.17171763A>G (hg19)
chr10:g.17129764A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.17129764A>G , CM000672.2:g.17129764A>G
GRCh38
NC_000010.10:g.17171763A>G , CM000672.1:g.17171763A>G
GRCh37
NC_000010.9:g.17211769A>G
NCBI36
NG_008967.1:g.5054T>C , LRG_540:g.5054T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000377833.10:c.2T>C
MANE Select
ENSP00000367064.4:p.Met1Thr
ENST00000377823.1:c.2T>C
ENSP00000367054.1:p.Met1Thr
ENST00000377833.8:c.2T>C
ENSP00000367064.4:p.Met1Thr
NM_001081.3:c.2T>C , LRG_540t1:c.2T>C
NP_001072.2:p.Met1Thr
XM_011519708.1:c.2T>C
XP_011518010.1:p.Met1Thr
XM_011519708.2:c.2T>C
XP_011518010.1:p.Met1Thr
NM_001081.4:c.2T>C
MANE Select
NP_001072.2:p.Met1Thr
Search 100 bp 5'
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