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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:
CA126930
Gene: DSPP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16859
ClinVar RCV Id:
RCV000018355
RCV001268904
dbSNP Id:
rs121912989
MyVariant Identifiers:
chr4:g.88532104C>T (hg19)
chr4:g.87610952C>T (hg38)
PubMed:
PMID:14758537
PMID:22392858
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87610952C>T , CM000666.2:g.87610952C>T
GRCh38
NC_000004.11:g.88532104C>T , CM000666.1:g.88532104C>T
GRCh37
NC_000004.10:g.88751128C>T
NCBI36
NG_011595.1:g.7424C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.44C>T
MANE Select
ENSP00000498766.1:p.Ala15Val
ENST00000282478.7:c.44C>T
ENSP00000282478.7:p.Ala15Val
ENST00000399271.5:c.44C>T
ENSP00000382213.1:p.Ala15Val
NM_014208.3:c.44C>T
MANE Select
NP_055023.2:p.Ala15Val
Search 100 bp 5'
Search 100 bp 3'