Canonical Allele Identifier: CA126928
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 16857
ClinVar RCV Id: RCV000018353
dbSNP Id: rs121912988

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610924T>G , CM000666.2:g.87610924T>G GRCh38
NC_000004.11:g.88532076T>G , CM000666.1:g.88532076T>G GRCh37
NC_000004.10:g.88751100T>G NCBI36
NG_011595.1:g.7396T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.16T>G MANE Select ENSP00000498766.1:p.Tyr6Asp
ENST00000282478.7:c.16T>G ENSP00000282478.7:p.Tyr6Asp
ENST00000399271.5:c.16T>G ENSP00000382213.1:p.Tyr6Asp
NM_014208.3:c.16T>G MANE Select NP_055023.2:p.Tyr6Asp