Canonical Allele Identifier: CA282320749

Gene: AGRP ATP6V0D1-DT

Linked Data

• ClinVar Variation Id: 2357224
• ClinVar RCV Id: RCV004197947
• dbSNP Id: rs750837166
• gnomAD v2: 16-67516561-A-T
• gnomAD v3: 16-67482658-A-T
• gnomAD v4: 16-67482658-A-T
• MyVariant Identifiers: chr16:g.67516561A>T (hg19) ; chr16:g.67482658A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67482658A>T , CM000678.2:g.67482658A>T	GRCh38
NC_000016.9:g.67516561A>T , CM000678.1:g.67516561A>T	GRCh37
NC_000016.8:g.66074062A>T	NCBI36
NG_011482.1:g.3529T>A
NG_011501.1:g.6156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290953.3:c.377T>A (AGRP) MANE Select	ENSP00000290953.3:p.Met126Lys
ENST00000290953.2:c.377T>A (AGRP)	ENSP00000290953.2:p.Met126Lys
NM_001138.1:c.377T>A (AGRP)	NP_001129.1:p.Met126Lys
XM_011522927.1:c.377T>A (AGRP)	XP_011521229.1:p.Met126Lys
XR_243465.2:n.198+1139A>T (ATP6V0D1-DT)
XR_933690.1:n.199+1139A>T (ATP6V0D1-DT)
XR_933691.1:n.198+1139A>T (ATP6V0D1-DT)
XR_933692.1:n.200+1139A>T (ATP6V0D1-DT)
XR_001752246.1:n.193+1139A>T (ATP6V0D1-DT)
XR_001752247.1:n.193+1139A>T (ATP6V0D1-DT)
XR_001752248.1:n.195+1139A>T (ATP6V0D1-DT)
XR_001752249.1:n.193+1139A>T (ATP6V0D1-DT)
XR_001752250.1:n.193+1139A>T (ATP6V0D1-DT)
XR_933690.2:n.195+1139A>T (ATP6V0D1-DT)
XR_933691.2:n.201+1139A>T (ATP6V0D1-DT)
XR_933692.2:n.196+1139A>T (ATP6V0D1-DT)
NM_001138.2:c.377T>A (AGRP) MANE Select	NP_001129.1:p.Met126Lys