Canonical Allele Identifier: CA2241805447

Gene: DPEP1

Linked Data

• dbSNP Id: rs2059364689
• gnomAD v3: 16-89614685-C-G
• gnomAD v4: 16-89614685-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614685C>G , CM000678.2:g.89614685C>G	GRCh38
NC_000016.9:g.89681093C>G , CM000678.1:g.89681093C>G	GRCh37
NC_000016.8:g.88208594C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+966C>G MANE Select	ENSP00000508584.1:n.-107+966C>G
ENST00000421184.5:c.-107+1281C>G	ENSP00000397313.1:n.-107+1281C>G
ENST00000564281.5:n.47+966C>G
ENST00000565249.5:n.171+966C>G
ENST00000570029.5:c.-107+1281C>G	ENSP00000455916.1:n.-107+1281C>G
NM_001128141.2:c.-107+1281C>G	NP_001121613.1:n.-107+1281C>G
XM_005256285.3:c.-107+966C>G	XP_005256342.1:n.-107+966C>G
XM_011522926.1:c.-107+966C>G	XP_011521228.1:n.-107+966C>G
XM_005256285.5:c.-107+966C>G	XP_005256342.1:n.-107+966C>G
NM_001128141.3:c.-107+1281C>G	NP_001121613.1:n.-107+1281C>G
NM_001389466.1:c.-107+966C>G MANE Select	NP_001376395.1:n.-107+966C>G
NM_001389470.1:c.-107+966C>G	NP_001376399.1:n.-107+966C>G