Canonical Allele Identifier: CA3000853

Gene: DSPP

Linked Data

• ClinVar Variation Id: 287643
• ClinVar RCV Id: RCV000377403
• dbSNP Id: rs755468936
• ExAC: 4:88533552 A / G
• gnomAD v2: 4-88533552-A-G
• gnomAD v4: 4-87612400-A-G
• MyVariant Identifiers: chr4:g.88533552A>G (hg19) ; chr4:g.87612400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612400A>G , CM000666.2:g.87612400A>G	GRCh38
NC_000004.11:g.88533552A>G , CM000666.1:g.88533552A>G	GRCh37
NC_000004.10:g.88752576A>G	NCBI36
NG_011595.1:g.8872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.214A>G MANE Select	ENSP00000498766.1:p.Thr72Ala
ENST00000282478.7:c.214A>G	ENSP00000282478.7:p.Thr72Ala
ENST00000399271.5:c.214A>G	ENSP00000382213.1:p.Thr72Ala
NM_014208.3:c.214A>G MANE Select	NP_055023.2:p.Thr72Ala