Canonical Allele Identifier: CA3000852

Gene: DSPP

Linked Data

• ClinVar Variation Id: 1800976
• ClinVar RCV Id: RCV002462573 ; RCV003479429
• dbSNP Id: rs375736274
• ExAC: 4:88533549 A / T
• gnomAD v2: 4-88533549-A-T
• gnomAD v3: 4-87612397-A-T
• gnomAD v4: 4-87612397-A-T
• COSMIC: COSM2957134
• MyVariant Identifiers: chr4:g.88533549A>T (hg19) ; chr4:g.87612397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612397A>T , CM000666.2:g.87612397A>T	GRCh38
NC_000004.11:g.88533549A>T , CM000666.1:g.88533549A>T	GRCh37
NC_000004.10:g.88752573A>T	NCBI36
NG_011595.1:g.8869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.211A>T MANE Select	ENSP00000498766.1:p.Asn71Tyr
ENST00000282478.7:c.211A>T	ENSP00000282478.7:p.Asn71Tyr
ENST00000399271.5:c.211A>T	ENSP00000382213.1:p.Asn71Tyr
NM_014208.3:c.211A>T MANE Select	NP_055023.2:p.Asn71Tyr