Canonical Allele Identifier: CA3000856

Gene: DSPP

Linked Data

• dbSNP Id: rs772101016
• ExAC: 4:88533578 G / A
• gnomAD v2: 4-88533578-G-A
• gnomAD v4: 4-87612426-G-A
• MyVariant Identifiers: chr4:g.88533578G>A (hg19) ; chr4:g.87612426G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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