Canonical Allele Identifier: CA3000846
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs764906331
ExAC: 4:88533516 C / A
gnomAD v2: 4-88533516-C-A
gnomAD v3: 4-87612364-C-A
gnomAD v4: 4-87612364-C-A
MyVariant Identifiers: chr4:g.88533516C>A (hg19) chr4:g.87612364C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612364C>A , CM000666.2:g.87612364C>A GRCh38
NC_000004.11:g.88533516C>A , CM000666.1:g.88533516C>A GRCh37
NC_000004.10:g.88752540C>A NCBI36
NG_011595.1:g.8836C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.178C>A MANE Select ENSP00000498766.1:p.Leu60Met
ENST00000282478.7:c.178C>A ENSP00000282478.7:p.Leu60Met
ENST00000399271.5:c.178C>A ENSP00000382213.1:p.Leu60Met
NM_014208.3:c.178C>A MANE Select NP_055023.2:p.Leu60Met
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