Canonical Allele Identifier: CA357603713
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1727760478

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612686T>C , CM000666.2:g.87612686T>C GRCh38
NC_000004.11:g.88533838T>C , CM000666.1:g.88533838T>C GRCh37
NC_000004.10:g.88752862T>C NCBI36
NG_011595.1:g.9158T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.500T>C MANE Select ENSP00000498766.1:p.Val167Ala
ENST00000282478.7:c.500T>C ENSP00000282478.7:p.Val167Ala
ENST00000399271.5:c.500T>C ENSP00000382213.1:p.Val167Ala
NM_014208.3:c.500T>C MANE Select NP_055023.2:p.Val167Ala