Canonical Allele Identifier: CA360371649
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90692731-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7078C>A MANE Select ENSP00000384582.2:p.Arg2360Ser
ENST00000639431.1:c.265+16522C>A ENSP00000491057.1:n.265+16522C>A
ENST00000639473.1:n.2537C>A
ENST00000640012.1:c.885C>A
ENST00000640374.1:n.222C>A
ENST00000640403.1:c.4369C>A ENSP00000492531.1:p.Arg1457Ser
ENST00000640779.1:c.1807C>A
ENST00000405460.6:c.7078C>A ENSP00000384582.2:p.Arg2360Ser
NM_032119.3:c.7078C>A NP_115495.3:p.Arg2360Ser
NR_003149.1:n.7091C>A
XM_011543675.1:c.7075C>A XP_011541977.1:p.Arg2359Ser
XM_011543676.1:c.6997C>A XP_011541978.1:p.Arg2333Ser
XM_011543677.1:c.4381C>A XP_011541979.1:p.Arg1461Ser
XM_011543678.1:c.7078C>A XP_011541980.1:p.Arg2360Ser
XM_011543679.1:c.7078C>A XP_011541981.1:p.Arg2360Ser
NM_032119.4:c.7078C>A MANE Select NP_115495.3:p.Arg2360Ser
XM_017009963.2:c.7078C>A XP_016865452.1:p.Arg2360Ser
XM_017009964.2:c.7075C>A XP_016865453.1:p.Arg2359Ser
XM_017009965.1:c.7075C>A XP_016865454.1:p.Arg2359Ser
XM_017009966.2:c.6997C>A XP_016865455.1:p.Arg2333Ser
XM_017009967.1:c.6982C>A XP_016865456.1:p.Arg2328Ser
XM_017009968.2:c.7078C>A XP_016865457.1:p.Arg2360Ser
XM_017009969.2:c.7078C>A XP_016865458.1:p.Arg2360Ser
XM_017009970.2:c.7078C>A XP_016865459.1:p.Arg2360Ser
XM_017009971.2:c.7078C>A XP_016865460.1:p.Arg2360Ser
XM_017009972.1:c.196C>A XP_016865461.1:p.Arg66Ser
XM_017009973.1:c.196C>A XP_016865462.1:p.Arg66Ser
XM_017009974.2:c.7078C>A XP_016865463.1:p.Arg2360Ser
NR_003149.2:n.7094C>A