Canonical Allele Identifier: CA3339513
Community Standard Title: NM_032119.4(ADGRV1):c.5186A>G (p.His1729Arg)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90675318A>G , CM000667.2:g.90675318A>G GRCh38
NC_000005.9:g.89971135A>G , CM000667.1:g.89971135A>G GRCh37
NC_000005.8:g.90006891A>G NCBI36
NG_007083.1:g.121519A>G
NG_007083.2:g.150975A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.5186A>G MANE Select NP_115495.3:p.His1729Arg
ENST00000405460.9:c.5186A>G MANE Select ENSP00000384582.2:p.His1729Arg
NM_032119.3:c.5186A>G NP_115495.3:p.His1729Arg
NR_003149.1:n.5282A>G
NR_003149.2:n.5285A>G
ENST00000405460.6:c.5186A>G ENSP00000384582.2:p.His1729Arg
ENST00000450321.2:n.521A>G
ENST00000639431.1:c.8A>G ENSP00000491057.1:p.His3Arg
ENST00000639473.1:n.645A>G
ENST00000640403.1:c.2477A>G ENSP00000492531.1:p.His826Arg
ENST00000640779.1:c.1A>G
XM_011543675.1:c.5186A>G XP_011541977.1:p.His1729Arg
XM_011543676.1:c.5186A>G XP_011541978.1:p.His1729Arg
XM_011543677.1:c.2489A>G XP_011541979.1:p.His830Arg
XM_011543678.1:c.5186A>G XP_011541980.1:p.His1729Arg
XM_011543679.1:c.5186A>G XP_011541981.1:p.His1729Arg
XM_017009963.2:c.5186A>G XP_016865452.1:p.His1729Arg
XM_017009964.2:c.5186A>G XP_016865453.1:p.His1729Arg
XM_017009965.1:c.5183A>G XP_016865454.1:p.His1728Arg
XM_017009966.2:c.5186A>G XP_016865455.1:p.His1729Arg
XM_017009967.1:c.5090A>G XP_016865456.1:p.His1697Arg
XM_017009968.2:c.5186A>G XP_016865457.1:p.His1729Arg
XM_017009969.2:c.5186A>G XP_016865458.1:p.His1729Arg
XM_017009970.2:c.5186A>G XP_016865459.1:p.His1729Arg
XM_017009971.2:c.5186A>G XP_016865460.1:p.His1729Arg
XM_017009973.1:c.-1611A>G XP_016865462.1:n.-1611A>G
XM_017009974.2:c.5186A>G XP_016865463.1:p.His1729Arg