Canonical Allele Identifier: CA357602905
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533480T>A (hg19) chr4:g.87612328T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612328T>A , CM000666.2:g.87612328T>A GRCh38
NC_000004.11:g.88533480T>A , CM000666.1:g.88533480T>A GRCh37
NC_000004.10:g.88752504T>A NCBI36
NG_011595.1:g.8800T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.142T>A MANE Select ENSP00000498766.1:p.Leu48Ile
ENST00000282478.7:c.142T>A ENSP00000282478.7:p.Leu48Ile
ENST00000399271.5:c.142T>A ENSP00000382213.1:p.Leu48Ile
NM_014208.3:c.142T>A MANE Select NP_055023.2:p.Leu48Ile
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