Canonical Allele Identifier: CA3000900
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs779961753
ExAC: 4:88533830 T / G
gnomAD v2: 4-88533830-T-G
gnomAD v4: 4-87612678-T-G
MyVariant Identifiers: chr4:g.88533830T>G (hg19) chr4:g.87612678T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612678T>G , CM000666.2:g.87612678T>G GRCh38
NC_000004.11:g.88533830T>G , CM000666.1:g.88533830T>G GRCh37
NC_000004.10:g.88752854T>G NCBI36
NG_011595.1:g.9150T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.492T>G MANE Select ENSP00000498766.1:p.Asn164Lys
ENST00000282478.7:c.492T>G ENSP00000282478.7:p.Asn164Lys
ENST00000399271.5:c.492T>G ENSP00000382213.1:p.Asn164Lys
NM_014208.3:c.492T>G MANE Select NP_055023.2:p.Asn164Lys
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