Canonical Allele Identifier: CA3339963

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1059577
• ClinVar RCV Id: RCV001368891
• dbSNP Id: rs369782677
• ExAC: 5:89988548 C / T
• gnomAD v2: 5-89988548-C-T
• gnomAD v3: 5-90692731-C-T
• gnomAD v4: 5-90692731-C-T
• COSMIC: COSM3140677
• MyVariant Identifiers: chr5:g.89988548C>T (hg19) ; chr5:g.90692731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692731C>T , CM000667.2:g.90692731C>T	GRCh38
NC_000005.9:g.89988548C>T , CM000667.1:g.89988548C>T	GRCh37
NC_000005.8:g.90024304C>T	NCBI36
NG_007083.1:g.138932C>T
NG_007083.2:g.168388C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7078C>T MANE Select	ENSP00000384582.2:p.Arg2360Cys
ENST00000639431.1:c.265+16522C>T	ENSP00000491057.1:n.265+16522C>T
ENST00000639473.1:n.2537C>T
ENST00000640012.1:c.885C>T
ENST00000640374.1:n.222C>T
ENST00000640403.1:c.4369C>T	ENSP00000492531.1:p.Arg1457Cys
ENST00000640779.1:c.1807C>T
ENST00000405460.6:c.7078C>T	ENSP00000384582.2:p.Arg2360Cys
NM_032119.3:c.7078C>T	NP_115495.3:p.Arg2360Cys
NR_003149.1:n.7091C>T
XM_011543675.1:c.7075C>T	XP_011541977.1:p.Arg2359Cys
XM_011543676.1:c.6997C>T	XP_011541978.1:p.Arg2333Cys
XM_011543677.1:c.4381C>T	XP_011541979.1:p.Arg1461Cys
XM_011543678.1:c.7078C>T	XP_011541980.1:p.Arg2360Cys
XM_011543679.1:c.7078C>T	XP_011541981.1:p.Arg2360Cys
NM_032119.4:c.7078C>T MANE Select	NP_115495.3:p.Arg2360Cys
XM_017009963.2:c.7078C>T	XP_016865452.1:p.Arg2360Cys
XM_017009964.2:c.7075C>T	XP_016865453.1:p.Arg2359Cys
XM_017009965.1:c.7075C>T	XP_016865454.1:p.Arg2359Cys
XM_017009966.2:c.6997C>T	XP_016865455.1:p.Arg2333Cys
XM_017009967.1:c.6982C>T	XP_016865456.1:p.Arg2328Cys
XM_017009968.2:c.7078C>T	XP_016865457.1:p.Arg2360Cys
XM_017009969.2:c.7078C>T	XP_016865458.1:p.Arg2360Cys
XM_017009970.2:c.7078C>T	XP_016865459.1:p.Arg2360Cys
XM_017009971.2:c.7078C>T	XP_016865460.1:p.Arg2360Cys
XM_017009972.1:c.196C>T	XP_016865461.1:p.Arg66Cys
XM_017009973.1:c.196C>T	XP_016865462.1:p.Arg66Cys
XM_017009974.2:c.7078C>T	XP_016865463.1:p.Arg2360Cys
NR_003149.2:n.7094C>T