Canonical Allele Identifier: CA445404538
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1561538613
gnomAD v4: 5-90692721-G-A
MyVariant Identifiers: chr5:g.89988538G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692721G>A , CM000667.2:g.90692721G>A GRCh38
NC_000005.9:g.89988538G>A , CM000667.1:g.89988538G>A GRCh37
NC_000005.8:g.90024294G>A NCBI36
NG_007083.1:g.138922G>A
NG_007083.2:g.168378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7068G>A MANE Select ENSP00000384582.2:p.Gln2356=
ENST00000639431.1:c.265+16512G>A ENSP00000491057.1:n.265+16512G>A
ENST00000639473.1:n.2527G>A
ENST00000640012.1:c.875G>A
ENST00000640374.1:n.212G>A
ENST00000640403.1:c.4359G>A ENSP00000492531.1:p.Gln1453=
ENST00000640779.1:c.1797G>A
ENST00000405460.6:c.7068G>A ENSP00000384582.2:p.Gln2356=
NM_032119.3:c.7068G>A NP_115495.3:p.Gln2356=
NR_003149.1:n.7081G>A
XM_011543675.1:c.7065G>A XP_011541977.1:p.Gln2355=
XM_011543676.1:c.6987G>A XP_011541978.1:p.Gln2329=
XM_011543677.1:c.4371G>A XP_011541979.1:p.Gln1457=
XM_011543678.1:c.7068G>A XP_011541980.1:p.Gln2356=
XM_011543679.1:c.7068G>A XP_011541981.1:p.Gln2356=
NM_032119.4:c.7068G>A MANE Select NP_115495.3:p.Gln2356=
XM_017009963.2:c.7068G>A XP_016865452.1:p.Gln2356=
XM_017009964.2:c.7065G>A XP_016865453.1:p.Gln2355=
XM_017009965.1:c.7065G>A XP_016865454.1:p.Gln2355=
XM_017009966.2:c.6987G>A XP_016865455.1:p.Gln2329=
XM_017009967.1:c.6972G>A XP_016865456.1:p.Gln2324=
XM_017009968.2:c.7068G>A XP_016865457.1:p.Gln2356=
XM_017009969.2:c.7068G>A XP_016865458.1:p.Gln2356=
XM_017009970.2:c.7068G>A XP_016865459.1:p.Gln2356=
XM_017009971.2:c.7068G>A XP_016865460.1:p.Gln2356=
XM_017009972.1:c.186G>A XP_016865461.1:p.Gln62=
XM_017009973.1:c.186G>A XP_016865462.1:p.Gln62=
XM_017009974.2:c.7068G>A XP_016865463.1:p.Gln2356=
NR_003149.2:n.7084G>A