Canonical Allele Identifier: CA360372095

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1413188
• ClinVar RCV Id: RCV001925746
• dbSNP Id: rs2149632869
• gnomAD v4: 5-90692779-A-G
• MyVariant Identifiers: chr5:g.89988596A>G (hg19) ; chr5:g.90692779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692779A>G , CM000667.2:g.90692779A>G	GRCh38
NC_000005.9:g.89988596A>G , CM000667.1:g.89988596A>G	GRCh37
NC_000005.8:g.90024352A>G	NCBI36
NG_007083.1:g.138980A>G
NG_007083.2:g.168436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7126A>G MANE Select	ENSP00000384582.2:p.Arg2376Gly
ENST00000639431.1:c.265+16570A>G	ENSP00000491057.1:n.265+16570A>G
ENST00000639473.1:n.2585A>G
ENST00000640012.1:c.933A>G
ENST00000640374.1:n.270A>G
ENST00000640403.1:c.4417A>G	ENSP00000492531.1:p.Arg1473Gly
ENST00000640779.1:c.1855A>G
ENST00000405460.6:c.7126A>G	ENSP00000384582.2:p.Arg2376Gly
NM_032119.3:c.7126A>G	NP_115495.3:p.Arg2376Gly
NR_003149.1:n.7139A>G
XM_011543675.1:c.7123A>G	XP_011541977.1:p.Arg2375Gly
XM_011543676.1:c.7045A>G	XP_011541978.1:p.Arg2349Gly
XM_011543677.1:c.4429A>G	XP_011541979.1:p.Arg1477Gly
XM_011543678.1:c.7126A>G	XP_011541980.1:p.Arg2376Gly
XM_011543679.1:c.7126A>G	XP_011541981.1:p.Arg2376Gly
NM_032119.4:c.7126A>G MANE Select	NP_115495.3:p.Arg2376Gly
XM_017009963.2:c.7126A>G	XP_016865452.1:p.Arg2376Gly
XM_017009964.2:c.7123A>G	XP_016865453.1:p.Arg2375Gly
XM_017009965.1:c.7123A>G	XP_016865454.1:p.Arg2375Gly
XM_017009966.2:c.7045A>G	XP_016865455.1:p.Arg2349Gly
XM_017009967.1:c.7030A>G	XP_016865456.1:p.Arg2344Gly
XM_017009968.2:c.7126A>G	XP_016865457.1:p.Arg2376Gly
XM_017009969.2:c.7126A>G	XP_016865458.1:p.Arg2376Gly
XM_017009970.2:c.7126A>G	XP_016865459.1:p.Arg2376Gly
XM_017009971.2:c.7126A>G	XP_016865460.1:p.Arg2376Gly
XM_017009972.1:c.244A>G	XP_016865461.1:p.Arg82Gly
XM_017009973.1:c.244A>G	XP_016865462.1:p.Arg82Gly
XM_017009974.2:c.7126A>G	XP_016865463.1:p.Arg2376Gly
NR_003149.2:n.7142A>G