Canonical Allele Identifier: CA357603524
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1727758287
gnomAD v3: 4-87612604-G-T
gnomAD v4: 4-87612604-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612604G>T , CM000666.2:g.87612604G>T GRCh38
NC_000004.11:g.88533756G>T , CM000666.1:g.88533756G>T GRCh37
NC_000004.10:g.88752780G>T NCBI36
NG_011595.1:g.9076G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.418G>T MANE Select ENSP00000498766.1:p.Val140Leu
ENST00000282478.7:c.418G>T ENSP00000282478.7:p.Val140Leu
ENST00000399271.5:c.418G>T ENSP00000382213.1:p.Val140Leu
NM_014208.3:c.418G>T MANE Select NP_055023.2:p.Val140Leu