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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:
CA5425815
Gene: CUBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373456
ClinVar RCV Id:
RCV000413849
RCV001438020
dbSNP Id:
rs11254385
ExAC:
10:17171762 C / A
gnomAD v2:
10-17171762-C-A
gnomAD v3:
10-17129763-C-A
gnomAD v4:
10-17129763-C-A
MyVariant Identifiers:
chr10:g.17171762C>A (hg19)
chr10:g.17129763C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.17129763C>A , CM000672.2:g.17129763C>A
GRCh38
NC_000010.10:g.17171762C>A , CM000672.1:g.17171762C>A
GRCh37
NC_000010.9:g.17211768C>A
NCBI36
NG_008967.1:g.5055G>T , LRG_540:g.5055G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000377833.10:c.3G>T
MANE Select
ENSP00000367064.4:p.Met1Ile
ENST00000377823.1:c.3G>T
ENSP00000367054.1:p.Met1Ile
ENST00000377833.8:c.3G>T
ENSP00000367064.4:p.Met1Ile
NM_001081.3:c.3G>T , LRG_540t1:c.3G>T
NP_001072.2:p.Met1Ile
XM_011519708.1:c.3G>T
XP_011518010.1:p.Met1Ile
XM_011519708.2:c.3G>T
XP_011518010.1:p.Met1Ile
NM_001081.4:c.3G>T
MANE Select
NP_001072.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'