Canonical Allele Identifier: CA357603153

Gene: DSPP

Linked Data

• dbSNP Id: rs1233701085
• gnomAD v2: 4-88533592-G-A
• gnomAD v4: 4-87612440-G-A
• MyVariant Identifiers: chr4:g.88533592G>A (hg19) ; chr4:g.87612440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612440G>A , CM000666.2:g.87612440G>A	GRCh38
NC_000004.11:g.88533592G>A , CM000666.1:g.88533592G>A	GRCh37
NC_000004.10:g.88752616G>A	NCBI36
NG_011595.1:g.8912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.254G>A MANE Select	ENSP00000498766.1:p.Trp85Ter
ENST00000282478.7:c.254G>A	ENSP00000282478.7:p.Trp85Ter
ENST00000399271.5:c.254G>A	ENSP00000382213.1:p.Trp85Ter
NM_014208.3:c.254G>A MANE Select	NP_055023.2:p.Trp85Ter