Canonical Allele Identifier: CA725750075

Gene: DPEP1

Linked Data

• dbSNP Id: rs1288322238
• gnomAD v3: 16-89614462-C-T
• gnomAD v4: 16-89614462-C-T
• MyVariant Identifiers: chr16:g.89680870C>T (hg19) ; chr16:g.89614462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614462C>T , CM000678.2:g.89614462C>T	GRCh38
NC_000016.9:g.89680870C>T , CM000678.1:g.89680870C>T	GRCh37
NC_000016.8:g.88208371C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000690203.1:c.-107+743C>T MANE Select	ENSP00000508584.1:n.-107+743C>T
ENST00000421184.5:c.-107+1058C>T	ENSP00000397313.1:n.-107+1058C>T
ENST00000564281.5:n.47+743C>T
ENST00000565249.5:n.171+743C>T
ENST00000570029.5:c.-107+1058C>T	ENSP00000455916.1:n.-107+1058C>T
NM_001128141.2:c.-107+1058C>T	NP_001121613.1:n.-107+1058C>T
XM_005256285.3:c.-107+743C>T	XP_005256342.1:n.-107+743C>T
XM_011522926.1:c.-107+743C>T	XP_011521228.1:n.-107+743C>T
XM_005256285.5:c.-107+743C>T	XP_005256342.1:n.-107+743C>T
NM_001128141.3:c.-107+1058C>T	NP_001121613.1:n.-107+1058C>T
NM_001389466.1:c.-107+743C>T MANE Select	NP_001376395.1:n.-107+743C>T
NM_001389470.1:c.-107+743C>T	NP_001376399.1:n.-107+743C>T