Canonical Allele Identifier: CA3000888

Gene: DSPP

Linked Data

• ClinVar Variation Id: 2442765
• ClinVar RCV Id: RCV003149537
• dbSNP Id: rs370086773
• ExAC: 4:88533736 C / A
• gnomAD v2: 4-88533736-C-A
• gnomAD v3: 4-87612584-C-A
• gnomAD v4: 4-87612584-C-A
• MyVariant Identifiers: chr4:g.88533736C>A (hg19) ; chr4:g.87612584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612584C>A , CM000666.2:g.87612584C>A	GRCh38
NC_000004.11:g.88533736C>A , CM000666.1:g.88533736C>A	GRCh37
NC_000004.10:g.88752760C>A	NCBI36
NG_011595.1:g.9056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.398C>A MANE Select	ENSP00000498766.1:p.Ala133Glu
ENST00000282478.7:c.398C>A	ENSP00000282478.7:p.Ala133Glu
ENST00000399271.5:c.398C>A	ENSP00000382213.1:p.Ala133Glu
NM_014208.3:c.398C>A MANE Select	NP_055023.2:p.Ala133Glu