Canonical Allele Identifier: CA357602839
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 2980864
ClinVar RCV Id: RCV003840022
dbSNP Id: rs1366888240
gnomAD v2: 4-88533323-T-C
gnomAD v4: 4-87612171-T-C
MyVariant Identifiers: chr4:g.88533323T>C (hg19) chr4:g.87612171T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612171T>C , CM000666.2:g.87612171T>C GRCh38
NC_000004.11:g.88533323T>C , CM000666.1:g.88533323T>C GRCh37
NC_000004.10:g.88752347T>C NCBI36
NG_011595.1:g.8643T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.118T>C MANE Select ENSP00000498766.1:p.Ser40Pro
ENST00000282478.7:c.118T>C ENSP00000282478.7:p.Ser40Pro
ENST00000399271.5:c.118T>C ENSP00000382213.1:p.Ser40Pro
NM_014208.3:c.118T>C MANE Select NP_055023.2:p.Ser40Pro
Search 100 bp 5'
Search 100 bp 3'