Canonical Allele Identifier: CA357603667
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533818G>C (hg19) chr4:g.87612666G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612666G>C , CM000666.2:g.87612666G>C GRCh38
NC_000004.11:g.88533818G>C , CM000666.1:g.88533818G>C GRCh37
NC_000004.10:g.88752842G>C NCBI36
NG_011595.1:g.9138G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.480G>C MANE Select ENSP00000498766.1:p.Lys160Asn
ENST00000282478.7:c.480G>C ENSP00000282478.7:p.Lys160Asn
ENST00000399271.5:c.480G>C ENSP00000382213.1:p.Lys160Asn
NM_014208.3:c.480G>C MANE Select NP_055023.2:p.Lys160Asn
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