Canonical Allele Identifier: CA8111250

Gene: AGRP ATP6V0D1-DT

Linked Data

• ClinVar Variation Id: 1049092
• ClinVar RCV Id: RCV001354742 ; RCV002486474
• dbSNP Id: rs145840661
• ExAC: 16:67516674 T / C
• gnomAD v2: 16-67516674-T-C
• gnomAD v3: 16-67482771-T-C
• gnomAD v4: 16-67482771-T-C
• MyVariant Identifiers: chr16:g.67516674T>C (hg19) ; chr16:g.67482771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67482771T>C , CM000678.2:g.67482771T>C	GRCh38
NC_000016.9:g.67516674T>C , CM000678.1:g.67516674T>C	GRCh37
NC_000016.8:g.66074175T>C	NCBI36
NG_011482.1:g.3416A>G
NG_011501.1:g.6043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290953.3:c.264A>G (AGRP) MANE Select	ENSP00000290953.3:p.Val88=
ENST00000290953.2:c.264A>G (AGRP)	ENSP00000290953.2:p.Val88=
NM_001138.1:c.264A>G (AGRP)	NP_001129.1:p.Val88=
XM_011522927.1:c.264A>G (AGRP)	XP_011521229.1:p.Val88=
XR_243465.2:n.198+1252T>C (ATP6V0D1-DT)
XR_933690.1:n.199+1252T>C (ATP6V0D1-DT)
XR_933691.1:n.198+1252T>C (ATP6V0D1-DT)
XR_933692.1:n.200+1252T>C (ATP6V0D1-DT)
XR_001752246.1:n.193+1252T>C (ATP6V0D1-DT)
XR_001752247.1:n.193+1252T>C (ATP6V0D1-DT)
XR_001752248.1:n.195+1252T>C (ATP6V0D1-DT)
XR_001752249.1:n.193+1252T>C (ATP6V0D1-DT)
XR_001752250.1:n.193+1252T>C (ATP6V0D1-DT)
XR_933690.2:n.195+1252T>C (ATP6V0D1-DT)
XR_933691.2:n.201+1252T>C (ATP6V0D1-DT)
XR_933692.2:n.196+1252T>C (ATP6V0D1-DT)
NM_001138.2:c.264A>G (AGRP) MANE Select	NP_001129.1:p.Val88=