Canonical Allele Identifier: CA360367148

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1713524
• ClinVar RCV Id: RCV002295530
• dbSNP Id: rs1371174023
• gnomAD v3: 5-90755141-A-G
• gnomAD v4: 5-90755141-A-G
• MyVariant Identifiers: chr5:g.90050958A>G (hg19) ; chr5:g.90755141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755141A>G , CM000667.2:g.90755141A>G	GRCh38
NC_000005.9:g.90050958A>G , CM000667.1:g.90050958A>G	GRCh37
NC_000005.8:g.90086714A>G	NCBI36
NG_007083.1:g.201342A>G
NG_007083.2:g.230798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11536A>G MANE Select	ENSP00000384582.2:p.Lys3846Glu
ENST00000425867.3:c.667A>G	ENSP00000392618.3:p.Lys223Glu
ENST00000639431.1:c.265+78932A>G	ENSP00000491057.1:n.265+78932A>G
ENST00000640374.1:n.4680A>G
ENST00000640464.1:n.1955A>G
ENST00000405460.6:c.11536A>G	ENSP00000384582.2:p.Lys3846Glu
ENST00000509621.1:c.4233A>G
NM_032119.3:c.11536A>G	NP_115495.3:p.Lys3846Glu
NR_003149.1:n.11549A>G
XM_011543675.1:c.11533A>G	XP_011541977.1:p.Lys3845Glu
XM_011543676.1:c.11455A>G	XP_011541978.1:p.Lys3819Glu
XM_011543677.1:c.8839A>G	XP_011541979.1:p.Lys2947Glu
XM_011543678.1:c.11536A>G	XP_011541980.1:p.Lys3846Glu
NM_032119.4:c.11536A>G MANE Select	NP_115495.3:p.Lys3846Glu
XM_017009963.2:c.11557A>G	XP_016865452.1:p.Lys3853Glu
XM_017009964.2:c.11554A>G	XP_016865453.1:p.Lys3852Glu
XM_017009965.1:c.11554A>G	XP_016865454.1:p.Lys3852Glu
XM_017009966.2:c.11476A>G	XP_016865455.1:p.Lys3826Glu
XM_017009967.1:c.11461A>G	XP_016865456.1:p.Lys3821Glu
XM_017009968.2:c.11557A>G	XP_016865457.1:p.Lys3853Glu
XM_017009969.2:c.11557A>G	XP_016865458.1:p.Lys3853Glu
XM_017009970.2:c.11557A>G	XP_016865459.1:p.Lys3853Glu
XM_017009971.2:c.11557A>G	XP_016865460.1:p.Lys3853Glu
XM_017009972.1:c.4675A>G	XP_016865461.1:p.Lys1559Glu
XM_017009973.1:c.4654A>G	XP_016865462.1:p.Lys1552Glu
NR_003149.2:n.11552A>G