Canonical Allele Identifier: CA3000886
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs773901862
ExAC: 4:88533729 A / C
gnomAD v2: 4-88533729-A-C
gnomAD v4: 4-87612577-A-C
MyVariant Identifiers: chr4:g.88533729A>C (hg19) chr4:g.88533729_88533730delinsCT (hg19) chr4:g.87612577A>C (hg38) chr4:g.87612577_87612578delinsCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612577A>C , CM000666.2:g.87612577A>C GRCh38
NC_000004.11:g.88533729A>C , CM000666.1:g.88533729A>C GRCh37
NC_000004.10:g.88752753A>C NCBI36
NG_011595.1:g.9049A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.391A>C MANE Select ENSP00000498766.1:p.Ile131Leu
ENST00000282478.7:c.391A>C ENSP00000282478.7:p.Ile131Leu
ENST00000399271.5:c.391A>C ENSP00000382213.1:p.Ile131Leu
NM_014208.3:c.391A>C MANE Select NP_055023.2:p.Ile131Leu
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