Canonical Allele Identifier: CA3000907
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1370654
ClinVar RCV Id: RCV001877270
dbSNP Id: rs539814032
ExAC: 4:88533842 C / T
gnomAD v2: 4-88533842-C-T
gnomAD v3: 4-87612690-C-T
gnomAD v4: 4-87612690-C-T
MyVariant Identifiers: chr4:g.88533842C>T (hg19) chr4:g.87612690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612690C>T , CM000666.2:g.87612690C>T GRCh38
NC_000004.11:g.88533842C>T , CM000666.1:g.88533842C>T GRCh37
NC_000004.10:g.88752866C>T NCBI36
NG_011595.1:g.9162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.504C>T MANE Select ENSP00000498766.1:p.Gly168=
ENST00000282478.7:c.504C>T ENSP00000282478.7:p.Gly168=
ENST00000399271.5:c.504C>T ENSP00000382213.1:p.Gly168=
NM_014208.3:c.504C>T MANE Select NP_055023.2:p.Gly168=
Search 100 bp 5'
Search 100 bp 3'