Canonical Allele Identifier: CA357602844
Gene: DSPP HGNC NCBI

Linked Data

COSMIC: COSM3606839
MyVariant Identifiers: chr4:g.88533324C>T (hg19) chr4:g.87612172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612172C>T , CM000666.2:g.87612172C>T GRCh38
NC_000004.11:g.88533324C>T , CM000666.1:g.88533324C>T GRCh37
NC_000004.10:g.88752348C>T NCBI36
NG_011595.1:g.8644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.119C>T MANE Select ENSP00000498766.1:p.Ser40Leu
ENST00000282478.7:c.119C>T ENSP00000282478.7:p.Ser40Leu
ENST00000399271.5:c.119C>T ENSP00000382213.1:p.Ser40Leu
NM_014208.3:c.119C>T MANE Select NP_055023.2:p.Ser40Leu
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