Canonical Allele Identifier: CA8111317
Gene: AGRP HGNC NCBI
ATP6V0D1-DT HGNC NCBI
COSMIC:
COSM4129205 (not active)
MyVariant.info:
GRCh38 chr16:g.67483276C>T
GRCh37 chr16:g.67517179C>T
gnomAD v2:
16:67517179 C / T
gnomAD v3:
16:67483276 C / T
gnomAD v4:
chr16-67483276-C-T
Joint Max Group AF 0.24643129 (AFR)
Genomes Max Group AF 0.23997831 (AFR)
Exomes Max Group AF 0.25182075 (AFR)
ClinVar RCV:
RCV001695344
ClinVar Variation:
1280192
dbSNP:
34123523
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67483276C>T , CM000678.2:g.67483276C>T GRCh38
NC_000016.9:g.67517179C>T , CM000678.1:g.67517179C>T GRCh37
NC_000016.8:g.66074680C>T NCBI36
NG_011482.1:g.2911G>A
NG_011501.1:g.5538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290953.3:c.123G>A (AGRP) MANE Select ENSP00000290953.3:p.Glu41=
ENST00000290953.2:c.123G>A (AGRP) ENSP00000290953.2:p.Glu41=
NM_001138.1:c.123G>A (AGRP) NP_001129.1:p.Glu41=
XM_011522927.1:c.123G>A (AGRP) XP_011521229.1:p.Glu41=
XR_243465.2:n.199-834C>T (ATP6V0D1-DT)
XR_933690.1:n.200-834C>T (ATP6V0D1-DT)
XR_933691.1:n.199-834C>T (ATP6V0D1-DT)
XR_933692.1:n.201-834C>T (ATP6V0D1-DT)
XR_001752246.1:n.194-834C>T (ATP6V0D1-DT)
XR_001752247.1:n.194-834C>T (ATP6V0D1-DT)
XR_001752248.1:n.196-834C>T (ATP6V0D1-DT)
XR_001752249.1:n.194-834C>T (ATP6V0D1-DT)
XR_001752250.1:n.194-834C>T (ATP6V0D1-DT)
XR_933690.2:n.196-834C>T (ATP6V0D1-DT)
XR_933691.2:n.202-834C>T (ATP6V0D1-DT)
XR_933692.2:n.197-834C>T (ATP6V0D1-DT)
NM_001138.2:c.123G>A (AGRP) MANE Select NP_001129.1:p.Glu41=
Search 100 bp 5'
Search 100 bp 3'