Canonical Allele Identifier: CA138192
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46361
dbSNP Id: rs111033470

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692732G>A , CM000667.2:g.90692732G>A GRCh38
NC_000005.9:g.89988549G>A , CM000667.1:g.89988549G>A GRCh37
NC_000005.8:g.90024305G>A NCBI36
NG_007083.1:g.138933G>A
NG_007083.2:g.168389G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7079G>A MANE Select ENSP00000384582.2:p.Arg2360His
ENST00000639431.1:n.265+16523G>A ENSP00000491057.1:p.=
ENST00000639473.1:n.2538G>A
ENST00000640012.1:n.886G>A
ENST00000640374.1:n.223G>A
ENST00000640403.1:c.4370G>A ENSP00000492531.1:p.Arg1457His
ENST00000640779.1:n.1808G>A
ENST00000405460.6:c.7079G>A ENSP00000384582.2:p.Arg2360His
NM_032119.3:c.7079G>A NP_115495.3:p.Arg2360His
NR_003149.1:n.7092G>A
XM_011543675.1:c.7076G>A XP_011541977.1:p.Arg2359His
XM_011543676.1:c.6998G>A XP_011541978.1:p.Arg2333His
XM_011543677.1:c.4382G>A XP_011541979.1:p.Arg1461His
XM_011543678.1:c.7079G>A XP_011541980.1:p.Arg2360His
XM_011543679.1:c.7079G>A XP_011541981.1:p.Arg2360His
NM_032119.4:c.7079G>A MANE Select NP_115495.3:p.Arg2360His
XM_017009963.2:c.7079G>A XP_016865452.1:p.Arg2360His
XM_017009964.2:c.7076G>A XP_016865453.1:p.Arg2359His
XM_017009965.1:c.7076G>A XP_016865454.1:p.Arg2359His
XM_017009966.2:c.6998G>A XP_016865455.1:p.Arg2333His
XM_017009967.1:c.6983G>A XP_016865456.1:p.Arg2328His
XM_017009968.2:c.7079G>A XP_016865457.1:p.Arg2360His
XM_017009969.2:c.7079G>A XP_016865458.1:p.Arg2360His
XM_017009970.2:c.7079G>A XP_016865459.1:p.Arg2360His
XM_017009971.2:c.7079G>A XP_016865460.1:p.Arg2360His
XM_017009972.1:c.197G>A XP_016865461.1:p.Arg66His
XM_017009973.1:c.197G>A XP_016865462.1:p.Arg66His
XM_017009974.2:c.7079G>A XP_016865463.1:p.Arg2360His
NR_003149.2:n.7095G>A