Canonical Allele Identifier: CA360371273

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1996439
• ClinVar RCV Id: RCV002823736
• dbSNP Id: rs2366926
• gnomAD v4: 5-90692687-A-T
• MyVariant Identifiers: chr5:g.89988504A>T (hg19) ; chr5:g.90692687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692687A>T , CM000667.2:g.90692687A>T	GRCh38
NC_000005.9:g.89988504A>T , CM000667.1:g.89988504A>T	GRCh37
NC_000005.8:g.90024260A>T	NCBI36
NG_007083.1:g.138888A>T
NG_007083.2:g.168344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7034A>T MANE Select	ENSP00000384582.2:p.Asn2345Ile
ENST00000639431.1:c.265+16478A>T	ENSP00000491057.1:n.265+16478A>T
ENST00000639473.1:n.2493A>T
ENST00000640012.1:c.841A>T
ENST00000640374.1:n.178A>T
ENST00000640403.1:c.4325A>T	ENSP00000492531.1:p.Asn1442Ile
ENST00000640779.1:c.1763A>T
ENST00000405460.6:c.7034A>T	ENSP00000384582.2:p.Asn2345Ile
NM_032119.3:c.7034A>T	NP_115495.3:p.Asn2345Ile
NR_003149.1:n.7047A>T
XM_011543675.1:c.7031A>T	XP_011541977.1:p.Asn2344Ile
XM_011543676.1:c.6953A>T	XP_011541978.1:p.Asn2318Ile
XM_011543677.1:c.4337A>T	XP_011541979.1:p.Asn1446Ile
XM_011543678.1:c.7034A>T	XP_011541980.1:p.Asn2345Ile
XM_011543679.1:c.7034A>T	XP_011541981.1:p.Asn2345Ile
NM_032119.4:c.7034A>T MANE Select	NP_115495.3:p.Asn2345Ile
XM_017009963.2:c.7034A>T	XP_016865452.1:p.Asn2345Ile
XM_017009964.2:c.7031A>T	XP_016865453.1:p.Asn2344Ile
XM_017009965.1:c.7031A>T	XP_016865454.1:p.Asn2344Ile
XM_017009966.2:c.6953A>T	XP_016865455.1:p.Asn2318Ile
XM_017009967.1:c.6938A>T	XP_016865456.1:p.Asn2313Ile
XM_017009968.2:c.7034A>T	XP_016865457.1:p.Asn2345Ile
XM_017009969.2:c.7034A>T	XP_016865458.1:p.Asn2345Ile
XM_017009970.2:c.7034A>T	XP_016865459.1:p.Asn2345Ile
XM_017009971.2:c.7034A>T	XP_016865460.1:p.Asn2345Ile
XM_017009972.1:c.152A>T	XP_016865461.1:p.Asn51Ile
XM_017009973.1:c.152A>T	XP_016865462.1:p.Asn51Ile
XM_017009974.2:c.7034A>T	XP_016865463.1:p.Asn2345Ile
NR_003149.2:n.7050A>T