Canonical Allele Identifier: CA3001470
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 402805
ClinVar RCV Id: RCV000455966 RCV001662409
dbSNP Id: rs202210195
ExAC: 4:88537035 A / G
gnomAD v2: 4-88537035-A-G
gnomAD v3: 4-87615883-A-G
gnomAD v4: 4-87615883-A-G
MyVariant Identifiers: chr4:g.88537035A>G (hg19) chr4:g.88537035_88537050delinsGCAGCAGCGACAGCAG (hg19) chr4:g.87615883A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87615883A>G , CM000666.2:g.87615883A>G GRCh38
NC_000004.11:g.88537035A>G , CM000666.1:g.88537035A>G GRCh37
NC_000004.10:g.88756059A>G NCBI36
NG_011595.1:g.12355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.3221A>G MANE Select ENSP00000498766.1:p.Asp1074Gly
ENST00000282478.7:c.3221A>G ENSP00000282478.7:p.Asp1074Gly
ENST00000399271.5:c.3221A>G ENSP00000382213.1:p.Asp1074Gly
NM_014208.3:c.3221A>G MANE Select NP_055023.2:p.Asp1074Gly
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