Canonical Allele Identifier: CA261839
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46371
ClinVar RCV Id: RCV000039627
dbSNP Id: rs397517436

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694162G>A , CM000667.2:g.90694162G>A GRCh38
NC_000005.9:g.89989979G>A , CM000667.1:g.89989979G>A GRCh37
NC_000005.8:g.90025735G>A NCBI36
NG_007083.1:g.140363G>A
NG_007083.2:g.169819G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7406G>A MANE Select ENSP00000384582.2:p.Trp2469Ter
ENST00000639431.1:c.265+17953G>A ENSP00000491057.1:n.265+17953G>A
ENST00000639473.1:n.2865G>A
ENST00000640012.1:c.1213G>A
ENST00000640374.1:n.550G>A
ENST00000640403.1:c.4697G>A ENSP00000492531.1:p.Trp1566Ter
ENST00000640779.1:c.2135G>A
ENST00000405460.6:c.7406G>A ENSP00000384582.2:p.Trp2469Ter
ENST00000509621.1:c.103G>A
NM_032119.3:c.7406G>A NP_115495.3:p.Trp2469Ter
NR_003149.1:n.7419G>A
XM_011543675.1:c.7403G>A XP_011541977.1:p.Trp2468Ter
XM_011543676.1:c.7325G>A XP_011541978.1:p.Trp2442Ter
XM_011543677.1:c.4709G>A XP_011541979.1:p.Trp1570Ter
XM_011543678.1:c.7406G>A XP_011541980.1:p.Trp2469Ter
XM_011543679.1:c.7406G>A XP_011541981.1:p.Trp2469Ter
NM_032119.4:c.7406G>A MANE Select NP_115495.3:p.Trp2469Ter
XM_017009963.2:c.7406G>A XP_016865452.1:p.Trp2469Ter
XM_017009964.2:c.7403G>A XP_016865453.1:p.Trp2468Ter
XM_017009965.1:c.7403G>A XP_016865454.1:p.Trp2468Ter
XM_017009966.2:c.7325G>A XP_016865455.1:p.Trp2442Ter
XM_017009967.1:c.7310G>A XP_016865456.1:p.Trp2437Ter
XM_017009968.2:c.7406G>A XP_016865457.1:p.Trp2469Ter
XM_017009969.2:c.7406G>A XP_016865458.1:p.Trp2469Ter
XM_017009970.2:c.7406G>A XP_016865459.1:p.Trp2469Ter
XM_017009971.2:c.7406G>A XP_016865460.1:p.Trp2469Ter
XM_017009972.1:c.524G>A XP_016865461.1:p.Trp175Ter
XM_017009973.1:c.524G>A XP_016865462.1:p.Trp175Ter
XM_017009974.2:c.7406G>A XP_016865463.1:p.Trp2469Ter
NR_003149.2:n.7422G>A