Canonical Allele Identifier: CA440294391
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1044358322
gnomAD v3: 4-87612672-C-G
gnomAD v4: 4-87612672-C-G
COSMIC: COSM5569277
MyVariant Identifiers: chr4:g.88533824C>G (hg19) chr4:g.87612672C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612672C>G , CM000666.2:g.87612672C>G GRCh38
NC_000004.11:g.88533824C>G , CM000666.1:g.88533824C>G GRCh37
NC_000004.10:g.88752848C>G NCBI36
NG_011595.1:g.9144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.486C>G MANE Select ENSP00000498766.1:p.Thr162=
ENST00000282478.7:c.486C>G ENSP00000282478.7:p.Thr162=
ENST00000399271.5:c.486C>G ENSP00000382213.1:p.Thr162=
NM_014208.3:c.486C>G MANE Select NP_055023.2:p.Thr162=
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