Canonical Allele Identifier: CA286587247

Gene: DPEP1

Linked Data

• dbSNP Id: rs565661047
• gnomAD v2: 16-89681121-T-C
• gnomAD v3: 16-89614713-T-C
• gnomAD v4: 16-89614713-T-C
• MyVariant Identifiers: chr16:g.89681121T>C (hg19) ; chr16:g.89614713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614713T>C , CM000678.2:g.89614713T>C	GRCh38
NC_000016.9:g.89681121T>C , CM000678.1:g.89681121T>C	GRCh37
NC_000016.8:g.88208622T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+994T>C MANE Select	ENSP00000508584.1:n.-107+994T>C
ENST00000421184.5:c.-107+1309T>C	ENSP00000397313.1:n.-107+1309T>C
ENST00000564281.5:n.47+994T>C
ENST00000565249.5:n.171+994T>C
ENST00000570029.5:c.-107+1309T>C	ENSP00000455916.1:n.-107+1309T>C
NM_001128141.2:c.-107+1309T>C	NP_001121613.1:n.-107+1309T>C
XM_005256285.3:c.-107+994T>C	XP_005256342.1:n.-107+994T>C
XM_011522926.1:c.-107+994T>C	XP_011521228.1:n.-107+994T>C
XM_005256285.5:c.-107+994T>C	XP_005256342.1:n.-107+994T>C
NM_001128141.3:c.-107+1309T>C	NP_001121613.1:n.-107+1309T>C
NM_001389466.1:c.-107+994T>C MANE Select	NP_001376395.1:n.-107+994T>C
NM_001389470.1:c.-107+994T>C	NP_001376399.1:n.-107+994T>C