Canonical Allele Identifier: CA3001010
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 290804
ClinVar RCV Id: RCV000265736
dbSNP Id: rs201110163
gnomAD v2: 4-88534411-G-A
gnomAD v3: 4-87613259-G-A
gnomAD v4: 4-87613259-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87613259G>A , CM000666.2:g.87613259G>A GRCh38
NC_000004.11:g.88534411G>A , CM000666.1:g.88534411G>A GRCh37
NC_000004.10:g.88753435G>A NCBI36
NG_011595.1:g.9731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.1073G>A MANE Select ENSP00000498766.1:p.Arg358Lys
ENST00000282478.7:c.1073G>A ENSP00000282478.7:p.Arg358Lys
ENST00000399271.5:c.1073G>A ENSP00000382213.1:p.Arg358Lys
NM_014208.3:c.1073G>A MANE Select NP_055023.2:p.Arg358Lys