Canonical Allele Identifier: CA3000841
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1194811
ClinVar RCV Id: RCV001557684
dbSNP Id: rs376270964
ExAC: 4:88533486 G / C
gnomAD v2: 4-88533486-G-C
gnomAD v3: 4-87612334-G-C
gnomAD v4: 4-87612334-G-C
MyVariant Identifiers: chr4:g.88533486G>C (hg19) chr4:g.87612334G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612334G>C , CM000666.2:g.87612334G>C GRCh38
NC_000004.11:g.88533486G>C , CM000666.1:g.88533486G>C GRCh37
NC_000004.10:g.88752510G>C NCBI36
NG_011595.1:g.8806G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.148G>C MANE Select ENSP00000498766.1:p.Ala50Pro
ENST00000282478.7:c.148G>C ENSP00000282478.7:p.Ala50Pro
ENST00000399271.5:c.148G>C ENSP00000382213.1:p.Ala50Pro
NM_014208.3:c.148G>C MANE Select NP_055023.2:p.Ala50Pro
Search 100 bp 5'
Search 100 bp 3'