Canonical Allele Identifier: CA360371776

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1492797
• ClinVar RCV Id: RCV002012492
• dbSNP Id: rs1416724388
• gnomAD v2: 5-89988564-T-G
• gnomAD v4: 5-90692747-T-G
• MyVariant Identifiers: chr5:g.89988564T>G (hg19) ; chr5:g.90692747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692747T>G , CM000667.2:g.90692747T>G	GRCh38
NC_000005.9:g.89988564T>G , CM000667.1:g.89988564T>G	GRCh37
NC_000005.8:g.90024320T>G	NCBI36
NG_007083.1:g.138948T>G
NG_007083.2:g.168404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7094T>G MANE Select	ENSP00000384582.2:p.Leu2365Arg
ENST00000639431.1:c.265+16538T>G	ENSP00000491057.1:n.265+16538T>G
ENST00000639473.1:n.2553T>G
ENST00000640012.1:c.901T>G
ENST00000640374.1:n.238T>G
ENST00000640403.1:c.4385T>G	ENSP00000492531.1:p.Leu1462Arg
ENST00000640779.1:c.1823T>G
ENST00000405460.6:c.7094T>G	ENSP00000384582.2:p.Leu2365Arg
NM_032119.3:c.7094T>G	NP_115495.3:p.Leu2365Arg
NR_003149.1:n.7107T>G
XM_011543675.1:c.7091T>G	XP_011541977.1:p.Leu2364Arg
XM_011543676.1:c.7013T>G	XP_011541978.1:p.Leu2338Arg
XM_011543677.1:c.4397T>G	XP_011541979.1:p.Leu1466Arg
XM_011543678.1:c.7094T>G	XP_011541980.1:p.Leu2365Arg
XM_011543679.1:c.7094T>G	XP_011541981.1:p.Leu2365Arg
NM_032119.4:c.7094T>G MANE Select	NP_115495.3:p.Leu2365Arg
XM_017009963.2:c.7094T>G	XP_016865452.1:p.Leu2365Arg
XM_017009964.2:c.7091T>G	XP_016865453.1:p.Leu2364Arg
XM_017009965.1:c.7091T>G	XP_016865454.1:p.Leu2364Arg
XM_017009966.2:c.7013T>G	XP_016865455.1:p.Leu2338Arg
XM_017009967.1:c.6998T>G	XP_016865456.1:p.Leu2333Arg
XM_017009968.2:c.7094T>G	XP_016865457.1:p.Leu2365Arg
XM_017009969.2:c.7094T>G	XP_016865458.1:p.Leu2365Arg
XM_017009970.2:c.7094T>G	XP_016865459.1:p.Leu2365Arg
XM_017009971.2:c.7094T>G	XP_016865460.1:p.Leu2365Arg
XM_017009972.1:c.212T>G	XP_016865461.1:p.Leu71Arg
XM_017009973.1:c.212T>G	XP_016865462.1:p.Leu71Arg
XM_017009974.2:c.7094T>G	XP_016865463.1:p.Leu2365Arg
NR_003149.2:n.7110T>G