Canonical Allele Identifier: CA357603752
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612705-T-G
MyVariant Identifiers: chr4:g.88533857T>G (hg19) chr4:g.87612705T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612705T>G , CM000666.2:g.87612705T>G GRCh38
NC_000004.11:g.88533857T>G , CM000666.1:g.88533857T>G GRCh37
NC_000004.10:g.88752881T>G NCBI36
NG_011595.1:g.9177T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.519T>G MANE Select ENSP00000498766.1:p.Asn173Lys
ENST00000282478.7:c.519T>G ENSP00000282478.7:p.Asn173Lys
ENST00000399271.5:c.519T>G ENSP00000382213.1:p.Asn173Lys
NM_014208.3:c.519T>G MANE Select NP_055023.2:p.Asn173Lys
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