Canonical Allele Identifier: CA440294176
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs772101016
gnomAD v4: 4-87612426-G-T
MyVariant Identifiers: chr4:g.88533578G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612426G>T , CM000666.2:g.87612426G>T GRCh38
NC_000004.11:g.88533578G>T , CM000666.1:g.88533578G>T GRCh37
NC_000004.10:g.88752602G>T NCBI36
NG_011595.1:g.8898G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.240G>T MANE Select ENSP00000498766.1:p.Gly80=
ENST00000282478.7:c.240G>T ENSP00000282478.7:p.Gly80=
ENST00000399271.5:c.240G>T ENSP00000382213.1:p.Gly80=
NM_014208.3:c.240G>T MANE Select NP_055023.2:p.Gly80=