Canonical Allele Identifier: CA445404494

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2819581
• ClinVar RCV Id: RCV003721068
• COSMIC: COSM4349068
• MyVariant Identifiers: chr5:g.89988476C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692659C>A , CM000667.2:g.90692659C>A	GRCh38
NC_000005.9:g.89988476C>A , CM000667.1:g.89988476C>A	GRCh37
NC_000005.8:g.90024232C>A	NCBI36
NG_007083.1:g.138860C>A
NG_007083.2:g.168316C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7006C>A MANE Select	ENSP00000384582.2:p.Arg2336=
ENST00000639431.1:c.265+16450C>A	ENSP00000491057.1:n.265+16450C>A
ENST00000639473.1:n.2465C>A
ENST00000640012.1:c.813C>A
ENST00000640374.1:n.150C>A
ENST00000640403.1:c.4297C>A	ENSP00000492531.1:p.Arg1433=
ENST00000640779.1:c.1735C>A
ENST00000405460.6:c.7006C>A	ENSP00000384582.2:p.Arg2336=
NM_032119.3:c.7006C>A	NP_115495.3:p.Arg2336=
NR_003149.1:n.7019C>A
XM_011543675.1:c.7003C>A	XP_011541977.1:p.Arg2335=
XM_011543676.1:c.6925C>A	XP_011541978.1:p.Arg2309=
XM_011543677.1:c.4309C>A	XP_011541979.1:p.Arg1437=
XM_011543678.1:c.7006C>A	XP_011541980.1:p.Arg2336=
XM_011543679.1:c.7006C>A	XP_011541981.1:p.Arg2336=
NM_032119.4:c.7006C>A MANE Select	NP_115495.3:p.Arg2336=
XM_017009963.2:c.7006C>A	XP_016865452.1:p.Arg2336=
XM_017009964.2:c.7003C>A	XP_016865453.1:p.Arg2335=
XM_017009965.1:c.7003C>A	XP_016865454.1:p.Arg2335=
XM_017009966.2:c.6925C>A	XP_016865455.1:p.Arg2309=
XM_017009967.1:c.6910C>A	XP_016865456.1:p.Arg2304=
XM_017009968.2:c.7006C>A	XP_016865457.1:p.Arg2336=
XM_017009969.2:c.7006C>A	XP_016865458.1:p.Arg2336=
XM_017009970.2:c.7006C>A	XP_016865459.1:p.Arg2336=
XM_017009971.2:c.7006C>A	XP_016865460.1:p.Arg2336=
XM_017009972.1:c.124C>A	XP_016865461.1:p.Arg42=
XM_017009973.1:c.124C>A	XP_016865462.1:p.Arg42=
XM_017009974.2:c.7006C>A	XP_016865463.1:p.Arg2336=
NR_003149.2:n.7022C>A