Canonical Allele Identifier: CA138169
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46349
ClinVar RCV Id: RCV000039605
dbSNP Id: rs201210744

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90684163C>G , CM000667.2:g.90684163C>G GRCh38
NC_000005.9:g.89979980C>G , CM000667.1:g.89979980C>G GRCh37
NC_000005.8:g.90015736C>G NCBI36
NG_007083.1:g.130364C>G
NG_007083.2:g.159820C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.6242C>G MANE Select ENSP00000384582.2:p.Ser2081Cys
ENST00000639431.1:n.265+7954C>G ENSP00000491057.1:p.=
ENST00000639473.1:n.1701C>G
ENST00000640012.1:n.165-1617C>G
ENST00000640403.1:c.3533C>G ENSP00000492531.1:p.Ser1178Cys
ENST00000640779.1:n.1054C>G
ENST00000405460.6:c.6242C>G ENSP00000384582.2:p.Ser2081Cys
NM_032119.3:c.6242C>G NP_115495.3:p.Ser2081Cys
NR_003149.1:n.6338C>G
XM_011543675.1:c.6239C>G XP_011541977.1:p.Ser2080Cys
XM_011543676.1:c.6161C>G XP_011541978.1:p.Ser2054Cys
XM_011543677.1:c.3545C>G XP_011541979.1:p.Ser1182Cys
XM_011543678.1:c.6242C>G XP_011541980.1:p.Ser2081Cys
XM_011543679.1:c.6242C>G XP_011541981.1:p.Ser2081Cys
NM_032119.4:c.6242C>G MANE Select NP_115495.3:p.Ser2081Cys
XM_017009963.2:c.6242C>G XP_016865452.1:p.Ser2081Cys
XM_017009964.2:c.6239C>G XP_016865453.1:p.Ser2080Cys
XM_017009965.1:c.6239C>G XP_016865454.1:p.Ser2080Cys
XM_017009966.2:c.6161C>G XP_016865455.1:p.Ser2054Cys
XM_017009967.1:c.6146C>G XP_016865456.1:p.Ser2049Cys
XM_017009968.2:c.6242C>G XP_016865457.1:p.Ser2081Cys
XM_017009969.2:c.6242C>G XP_016865458.1:p.Ser2081Cys
XM_017009970.2:c.6242C>G XP_016865459.1:p.Ser2081Cys
XM_017009971.2:c.6242C>G XP_016865460.1:p.Ser2081Cys
XM_017009973.1:c.-558C>G XP_016865462.1:p.=
XM_017009974.2:c.6242C>G XP_016865463.1:p.Ser2081Cys
NR_003149.2:n.6341C>G