Canonical Allele Identifier: CA440294070
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533518G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612366G>A , CM000666.2:g.87612366G>A GRCh38
NC_000004.11:g.88533518G>A , CM000666.1:g.88533518G>A GRCh37
NC_000004.10:g.88752542G>A NCBI36
NG_011595.1:g.8838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.180G>A MANE Select ENSP00000498766.1:p.Leu60=
ENST00000282478.7:c.180G>A ENSP00000282478.7:p.Leu60=
ENST00000399271.5:c.180G>A ENSP00000382213.1:p.Leu60=
NM_014208.3:c.180G>A MANE Select NP_055023.2:p.Leu60=