Canonical Allele Identifier: CA3001010

Gene: DSPP

Linked Data

• ClinVar Variation Id: 290804
• ClinVar RCV Id: RCV000265736
• dbSNP Id: rs201110163
• ExAC: 4:88534411 G / A
• gnomAD v2: 4-88534411-G-A
• gnomAD v3: 4-87613259-G-A
• gnomAD v4: 4-87613259-G-A
• MyVariant Identifiers: chr4:g.88534411G>A (hg19) ; chr4:g.87613259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87613259G>A , CM000666.2:g.87613259G>A	GRCh38
NC_000004.11:g.88534411G>A , CM000666.1:g.88534411G>A	GRCh37
NC_000004.10:g.88753435G>A	NCBI36
NG_011595.1:g.9731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.1073G>A MANE Select	ENSP00000498766.1:p.Arg358Lys
ENST00000282478.7:c.1073G>A	ENSP00000282478.7:p.Arg358Lys
ENST00000399271.5:c.1073G>A	ENSP00000382213.1:p.Arg358Lys
NM_014208.3:c.1073G>A MANE Select	NP_055023.2:p.Arg358Lys