Canonical Allele Identifier: CA122797193

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1315832
• ClinVar RCV Id: RCV001757279
• dbSNP Id: rs911015463
• gnomAD v4: 5-90692789-A-G
• MyVariant Identifiers: chr5:g.89988606A>G (hg19) ; chr5:g.90692789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692789A>G , CM000667.2:g.90692789A>G	GRCh38
NC_000005.9:g.89988606A>G , CM000667.1:g.89988606A>G	GRCh37
NC_000005.8:g.90024362A>G	NCBI36
NG_007083.1:g.138990A>G
NG_007083.2:g.168446A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7133+3A>G MANE Select	ENSP00000384582.2:n.7133+3A>G
ENST00000639431.1:c.265+16580A>G	ENSP00000491057.1:n.265+16580A>G
ENST00000639473.1:n.2592+3A>G
ENST00000640012.1:c.940+3A>G
ENST00000640374.1:n.277+3A>G
ENST00000640403.1:c.4424+3A>G	ENSP00000492531.1:n.4424+3A>G
ENST00000640779.1:c.1862+3A>G
ENST00000405460.6:c.7133+3A>G	ENSP00000384582.2:n.7133+3A>G
NM_032119.3:c.7133+3A>G	NP_115495.3:n.7133+3A>G
NR_003149.1:n.7146+3A>G
XM_011543675.1:c.7130+3A>G	XP_011541977.1:n.7130+3A>G
XM_011543676.1:c.7052+3A>G	XP_011541978.1:n.7052+3A>G
XM_011543677.1:c.4436+3A>G	XP_011541979.1:n.4436+3A>G
XM_011543678.1:c.7133+3A>G	XP_011541980.1:n.7133+3A>G
XM_011543679.1:c.7133+3A>G	XP_011541981.1:n.7133+3A>G
NM_032119.4:c.7133+3A>G MANE Select	NP_115495.3:n.7133+3A>G
XM_017009963.2:c.7133+3A>G	XP_016865452.1:n.7133+3A>G
XM_017009964.2:c.7130+3A>G	XP_016865453.1:n.7130+3A>G
XM_017009965.1:c.7130+3A>G	XP_016865454.1:n.7130+3A>G
XM_017009966.2:c.7052+3A>G	XP_016865455.1:n.7052+3A>G
XM_017009967.1:c.7037+3A>G	XP_016865456.1:n.7037+3A>G
XM_017009968.2:c.7133+3A>G	XP_016865457.1:n.7133+3A>G
XM_017009969.2:c.7133+3A>G	XP_016865458.1:n.7133+3A>G
XM_017009970.2:c.7133+3A>G	XP_016865459.1:n.7133+3A>G
XM_017009971.2:c.7133+3A>G	XP_016865460.1:n.7133+3A>G
XM_017009972.1:c.251+3A>G	XP_016865461.1:n.251+3A>G
XM_017009973.1:c.251+3A>G	XP_016865462.1:n.251+3A>G
XM_017009974.2:c.7133+3A>G	XP_016865463.1:n.7133+3A>G
NR_003149.2:n.7149+3A>G