Canonical Allele Identifier: CA357602877
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 16854
ClinVar RCV Id: RCV000018348 RCV002513100 RCV004528120
dbSNP Id: rs1560477489
gnomAD v4: 4-87612189-G-A
MyVariant Identifiers: chr4:g.88533341G>A (hg19) chr4:g.87612189G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612189G>A , CM000666.2:g.87612189G>A GRCh38
NC_000004.11:g.88533341G>A , CM000666.1:g.88533341G>A GRCh37
NC_000004.10:g.88752365G>A NCBI36
NG_011595.1:g.8661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.135+1G>A MANE Select ENSP00000498766.1:n.135+1G>A
ENST00000282478.7:c.135+1G>A ENSP00000282478.7:n.135+1G>A
ENST00000399271.5:c.135+1G>A ENSP00000382213.1:n.135+1G>A
NM_014208.3:c.135+1G>A MANE Select NP_055023.2:n.135+1G>A
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