Canonical Allele Identifier: CA357603470
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612579C>G , CM000666.2:g.87612579C>G GRCh38
NC_000004.11:g.88533731C>G , CM000666.1:g.88533731C>G GRCh37
NC_000004.10:g.88752755C>G NCBI36
NG_011595.1:g.9051C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.393C>G MANE Select ENSP00000498766.1:p.Ile131Met
ENST00000282478.7:c.393C>G ENSP00000282478.7:p.Ile131Met
ENST00000399271.5:c.393C>G ENSP00000382213.1:p.Ile131Met
NM_014208.3:c.393C>G MANE Select NP_055023.2:p.Ile131Met