Canonical Allele Identifier: CA357603775
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612716-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612716C>T , CM000666.2:g.87612716C>T GRCh38
NC_000004.11:g.88533868C>T , CM000666.1:g.88533868C>T GRCh37
NC_000004.10:g.88752892C>T NCBI36
NG_011595.1:g.9188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.530C>T MANE Select ENSP00000498766.1:p.Ala177Val
ENST00000282478.7:c.530C>T ENSP00000282478.7:p.Ala177Val
ENST00000399271.5:c.530C>T ENSP00000382213.1:p.Ala177Val
NM_014208.3:c.530C>T MANE Select NP_055023.2:p.Ala177Val