Canonical Allele Identifier: CA440294190
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533587T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612435T>G , CM000666.2:g.87612435T>G GRCh38
NC_000004.11:g.88533587T>G , CM000666.1:g.88533587T>G GRCh37
NC_000004.10:g.88752611T>G NCBI36
NG_011595.1:g.8907T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.249T>G MANE Select ENSP00000498766.1:p.Ser83=
ENST00000282478.7:c.249T>G ENSP00000282478.7:p.Ser83=
ENST00000399271.5:c.249T>G ENSP00000382213.1:p.Ser83=
NM_014208.3:c.249T>G MANE Select NP_055023.2:p.Ser83=