Canonical Allele Identifier: CA440294122
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1727757211
MyVariant Identifiers: chr4:g.88533719A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612567A>G , CM000666.2:g.87612567A>G GRCh38
NC_000004.11:g.88533719A>G , CM000666.1:g.88533719A>G GRCh37
NC_000004.10:g.88752743A>G NCBI36
NG_011595.1:g.9039A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.381A>G MANE Select ENSP00000498766.1:p.Lys127=
ENST00000282478.7:c.381A>G ENSP00000282478.7:p.Lys127=
ENST00000399271.5:c.381A>G ENSP00000382213.1:p.Lys127=
NM_014208.3:c.381A>G MANE Select NP_055023.2:p.Lys127=
Search 100 bp 5'
Search 100 bp 3'