Canonical Allele Identifier: CA360371679
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90692732-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7079G>C MANE Select ENSP00000384582.2:p.Arg2360Pro
ENST00000639431.1:c.265+16523G>C ENSP00000491057.1:n.265+16523G>C
ENST00000639473.1:n.2538G>C
ENST00000640012.1:c.886G>C
ENST00000640374.1:n.223G>C
ENST00000640403.1:c.4370G>C ENSP00000492531.1:p.Arg1457Pro
ENST00000640779.1:c.1808G>C
ENST00000405460.6:c.7079G>C ENSP00000384582.2:p.Arg2360Pro
NM_032119.3:c.7079G>C NP_115495.3:p.Arg2360Pro
NR_003149.1:n.7092G>C
XM_011543675.1:c.7076G>C XP_011541977.1:p.Arg2359Pro
XM_011543676.1:c.6998G>C XP_011541978.1:p.Arg2333Pro
XM_011543677.1:c.4382G>C XP_011541979.1:p.Arg1461Pro
XM_011543678.1:c.7079G>C XP_011541980.1:p.Arg2360Pro
XM_011543679.1:c.7079G>C XP_011541981.1:p.Arg2360Pro
NM_032119.4:c.7079G>C MANE Select NP_115495.3:p.Arg2360Pro
XM_017009963.2:c.7079G>C XP_016865452.1:p.Arg2360Pro
XM_017009964.2:c.7076G>C XP_016865453.1:p.Arg2359Pro
XM_017009965.1:c.7076G>C XP_016865454.1:p.Arg2359Pro
XM_017009966.2:c.6998G>C XP_016865455.1:p.Arg2333Pro
XM_017009967.1:c.6983G>C XP_016865456.1:p.Arg2328Pro
XM_017009968.2:c.7079G>C XP_016865457.1:p.Arg2360Pro
XM_017009969.2:c.7079G>C XP_016865458.1:p.Arg2360Pro
XM_017009970.2:c.7079G>C XP_016865459.1:p.Arg2360Pro
XM_017009971.2:c.7079G>C XP_016865460.1:p.Arg2360Pro
XM_017009972.1:c.197G>C XP_016865461.1:p.Arg66Pro
XM_017009973.1:c.197G>C XP_016865462.1:p.Arg66Pro
XM_017009974.2:c.7079G>C XP_016865463.1:p.Arg2360Pro
NR_003149.2:n.7095G>C