Canonical Allele Identifier: CA357603450
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533723G>A (hg19) chr4:g.87612571G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612571G>A , CM000666.2:g.87612571G>A GRCh38
NC_000004.11:g.88533723G>A , CM000666.1:g.88533723G>A GRCh37
NC_000004.10:g.88752747G>A NCBI36
NG_011595.1:g.9043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.385G>A MANE Select ENSP00000498766.1:p.Glu129Lys
ENST00000282478.7:c.385G>A ENSP00000282478.7:p.Glu129Lys
ENST00000399271.5:c.385G>A ENSP00000382213.1:p.Glu129Lys
NM_014208.3:c.385G>A MANE Select NP_055023.2:p.Glu129Lys
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