Canonical Allele Identifier: CA118718

Gene: AGRP ATP6V0D1-DT

Linked Data

• ClinVar Variation Id: 7329
• ClinVar RCV Id: RCV000007754 ; RCV000007753 ; RCV003992146
• dbSNP Id: rs5030980
• ExAC: 16:67516945 C / T
• gnomAD v2: 16-67516945-C-T
• gnomAD v3: 16-67483042-C-T
• gnomAD v4: 16-67483042-C-T
• MyVariant Identifiers: chr16:g.67516945C>T (hg19) ; chr16:g.67483042C>T (hg38)
• PubMed: PMID:11602360 ; PMID:12213871 ; PMID:15054840

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67483042C>T , CM000678.2:g.67483042C>T	GRCh38
NC_000016.9:g.67516945C>T , CM000678.1:g.67516945C>T	GRCh37
NC_000016.8:g.66074446C>T	NCBI36
NG_011482.1:g.3145G>A
NG_011501.1:g.5772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290953.3:c.199G>A (AGRP) MANE Select	ENSP00000290953.3:p.Ala67Thr
ENST00000290953.2:c.199G>A (AGRP)	ENSP00000290953.2:p.Ala67Thr
NM_001138.1:c.199G>A (AGRP)	NP_001129.1:p.Ala67Thr
XM_011522927.1:c.199G>A (AGRP)	XP_011521229.1:p.Ala67Thr
XR_243465.2:n.199-1068C>T (ATP6V0D1-DT)
XR_933690.1:n.200-1068C>T (ATP6V0D1-DT)
XR_933691.1:n.199-1068C>T (ATP6V0D1-DT)
XR_933692.1:n.201-1068C>T (ATP6V0D1-DT)
XR_001752246.1:n.194-1068C>T (ATP6V0D1-DT)
XR_001752247.1:n.194-1068C>T (ATP6V0D1-DT)
XR_001752248.1:n.196-1068C>T (ATP6V0D1-DT)
XR_001752249.1:n.194-1068C>T (ATP6V0D1-DT)
XR_001752250.1:n.194-1068C>T (ATP6V0D1-DT)
XR_933690.2:n.196-1068C>T (ATP6V0D1-DT)
XR_933691.2:n.202-1068C>T (ATP6V0D1-DT)
XR_933692.2:n.197-1068C>T (ATP6V0D1-DT)
NM_001138.2:c.199G>A (AGRP) MANE Select	NP_001129.1:p.Ala67Thr