Canonical Allele Identifier: CA282320950

Gene: AGRP ATP6V0D1-DT

Linked Data

• dbSNP Id: rs987185746
• gnomAD v4: 16-67482791-G-A
• MyVariant Identifiers: chr16:g.67516694G>A (hg19) ; chr16:g.67482791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67482791G>A , CM000678.2:g.67482791G>A	GRCh38
NC_000016.9:g.67516694G>A , CM000678.1:g.67516694G>A	GRCh37
NC_000016.8:g.66074195G>A	NCBI36
NG_011482.1:g.3396C>T
NG_011501.1:g.6023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290953.3:c.244C>T (AGRP) MANE Select	ENSP00000290953.3:p.Arg82Cys
ENST00000290953.2:c.244C>T (AGRP)	ENSP00000290953.2:p.Arg82Cys
NM_001138.1:c.244C>T (AGRP)	NP_001129.1:p.Arg82Cys
XM_011522927.1:c.244C>T (AGRP)	XP_011521229.1:p.Arg82Cys
XR_243465.2:n.198+1272G>A (ATP6V0D1-DT)
XR_933690.1:n.199+1272G>A (ATP6V0D1-DT)
XR_933691.1:n.198+1272G>A (ATP6V0D1-DT)
XR_933692.1:n.200+1272G>A (ATP6V0D1-DT)
XR_001752246.1:n.193+1272G>A (ATP6V0D1-DT)
XR_001752247.1:n.193+1272G>A (ATP6V0D1-DT)
XR_001752248.1:n.195+1272G>A (ATP6V0D1-DT)
XR_001752249.1:n.193+1272G>A (ATP6V0D1-DT)
XR_001752250.1:n.193+1272G>A (ATP6V0D1-DT)
XR_933690.2:n.195+1272G>A (ATP6V0D1-DT)
XR_933691.2:n.201+1272G>A (ATP6V0D1-DT)
XR_933692.2:n.196+1272G>A (ATP6V0D1-DT)
NM_001138.2:c.244C>T (AGRP) MANE Select	NP_001129.1:p.Arg82Cys