Canonical Allele Identifier: CA440294073
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs200927888
gnomAD v2: 4-88533518-G-C
gnomAD v4: 4-87612366-G-C
MyVariant Identifiers: chr4:g.88533518G>C (hg19) chr4:g.87612366G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612366G>C , CM000666.2:g.87612366G>C GRCh38
NC_000004.11:g.88533518G>C , CM000666.1:g.88533518G>C GRCh37
NC_000004.10:g.88752542G>C NCBI36
NG_011595.1:g.8838G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.180G>C MANE Select ENSP00000498766.1:p.Leu60=
ENST00000282478.7:c.180G>C ENSP00000282478.7:p.Leu60=
ENST00000399271.5:c.180G>C ENSP00000382213.1:p.Leu60=
NM_014208.3:c.180G>C MANE Select NP_055023.2:p.Leu60=
Search 100 bp 5'
Search 100 bp 3'