Canonical Allele Identifier: CA138259

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46400
• ClinVar RCV Id: RCV000039656 ; RCV000710468 ; RCV001155532 ; RCV002496637
• dbSNP Id: rs73175207
• ExAC: 5:90006849 G / A
• gnomAD v2: 5-90006849-G-A
• gnomAD v3: 5-90711032-G-A
• gnomAD v4: 5-90711032-G-A
• MyVariant Identifiers: chr5:g.90006849G>A (hg19) ; chr5:g.90711032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90711032G>A , CM000667.2:g.90711032G>A	GRCh38
NC_000005.9:g.90006849G>A , CM000667.1:g.90006849G>A	GRCh37
NC_000005.8:g.90042605G>A	NCBI36
NG_007083.1:g.157233G>A
NG_007083.2:g.186689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.8876G>A MANE Select	ENSP00000384582.2:p.Arg2959Gln
ENST00000639431.1:c.265+34823G>A	ENSP00000491057.1:n.265+34823G>A
ENST00000639473.1:n.4335G>A
ENST00000640012.1:c.2683G>A
ENST00000640374.1:n.2020G>A
ENST00000640779.1:c.3605G>A
ENST00000405460.6:c.8876G>A	ENSP00000384582.2:p.Arg2959Gln
ENST00000509621.1:c.1573G>A
NM_032119.3:c.8876G>A	NP_115495.3:p.Arg2959Gln
NR_003149.1:n.8889G>A
XM_011543675.1:c.8873G>A	XP_011541977.1:p.Arg2958Gln
XM_011543676.1:c.8795G>A	XP_011541978.1:p.Arg2932Gln
XM_011543677.1:c.6179G>A	XP_011541979.1:p.Arg2060Gln
XM_011543678.1:c.8876G>A	XP_011541980.1:p.Arg2959Gln
XM_011543679.1:c.8876G>A	XP_011541981.1:p.Arg2959Gln
NM_032119.4:c.8876G>A MANE Select	NP_115495.3:p.Arg2959Gln
XM_017009963.2:c.8897G>A	XP_016865452.1:p.Arg2966Gln
XM_017009964.2:c.8894G>A	XP_016865453.1:p.Arg2965Gln
XM_017009965.1:c.8894G>A	XP_016865454.1:p.Arg2965Gln
XM_017009966.2:c.8816G>A	XP_016865455.1:p.Arg2939Gln
XM_017009967.1:c.8801G>A	XP_016865456.1:p.Arg2934Gln
XM_017009968.2:c.8897G>A	XP_016865457.1:p.Arg2966Gln
XM_017009969.2:c.8897G>A	XP_016865458.1:p.Arg2966Gln
XM_017009970.2:c.8897G>A	XP_016865459.1:p.Arg2966Gln
XM_017009971.2:c.8897G>A	XP_016865460.1:p.Arg2966Gln
XM_017009972.1:c.2015G>A	XP_016865461.1:p.Arg672Gln
XM_017009973.1:c.1994G>A	XP_016865462.1:p.Arg665Gln
XM_017009974.2:c.8897G>A	XP_016865463.1:p.Arg2966Gln
NR_003149.2:n.8892G>A