Canonical Allele Identifier: CA126926
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 16855
ClinVar RCV Id: RCV000018349
dbSNP Id: rs121912986
COSMIC: COSM1157743
MyVariant Identifiers: chr4:g.88532109C>A (hg19) chr4:g.87610957C>A (hg38)
PubMed: PMID:11175790 PMID:22392858
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610957C>A , CM000666.2:g.87610957C>A GRCh38
NC_000004.11:g.88532109C>A , CM000666.1:g.88532109C>A GRCh37
NC_000004.10:g.88751133C>A NCBI36
NG_011595.1:g.7429C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.49C>A MANE Select ENSP00000498766.1:p.Pro17Thr
ENST00000282478.7:c.49C>A ENSP00000282478.7:p.Pro17Thr
ENST00000399271.5:c.49C>A ENSP00000382213.1:p.Pro17Thr
NM_014208.3:c.49C>A MANE Select NP_055023.2:p.Pro17Thr
Search 100 bp 5'
Search 100 bp 3'