Canonical Allele Identifier: CA357602696
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 2811455
ClinVar RCV Id: RCV003682906
MyVariant Identifiers: chr4:g.88533258T>C (hg19) chr4:g.87612106T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612106T>C , CM000666.2:g.87612106T>C GRCh38
NC_000004.11:g.88533258T>C , CM000666.1:g.88533258T>C GRCh37
NC_000004.10:g.88752282T>C NCBI36
NG_011595.1:g.8578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.53T>C MANE Select ENSP00000498766.1:p.Val18Ala
ENST00000282478.7:c.53T>C ENSP00000282478.7:p.Val18Ala
ENST00000399271.5:c.53T>C ENSP00000382213.1:p.Val18Ala
NM_014208.3:c.53T>C MANE Select NP_055023.2:p.Val18Ala
Search 100 bp 5'
Search 100 bp 3'