Canonical Allele Identifier: CA445404516
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1384705855
gnomAD v2: 5-89988514-T-A
gnomAD v4: 5-90692697-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692697T>A , CM000667.2:g.90692697T>A GRCh38
NC_000005.9:g.89988514T>A , CM000667.1:g.89988514T>A GRCh37
NC_000005.8:g.90024270T>A NCBI36
NG_007083.1:g.138898T>A
NG_007083.2:g.168354T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7044T>A MANE Select ENSP00000384582.2:p.Pro2348=
ENST00000639431.1:c.265+16488T>A ENSP00000491057.1:n.265+16488T>A
ENST00000639473.1:n.2503T>A
ENST00000640012.1:c.851T>A
ENST00000640374.1:n.188T>A
ENST00000640403.1:c.4335T>A ENSP00000492531.1:p.Pro1445=
ENST00000640779.1:c.1773T>A
ENST00000405460.6:c.7044T>A ENSP00000384582.2:p.Pro2348=
NM_032119.3:c.7044T>A NP_115495.3:p.Pro2348=
NR_003149.1:n.7057T>A
XM_011543675.1:c.7041T>A XP_011541977.1:p.Pro2347=
XM_011543676.1:c.6963T>A XP_011541978.1:p.Pro2321=
XM_011543677.1:c.4347T>A XP_011541979.1:p.Pro1449=
XM_011543678.1:c.7044T>A XP_011541980.1:p.Pro2348=
XM_011543679.1:c.7044T>A XP_011541981.1:p.Pro2348=
NM_032119.4:c.7044T>A MANE Select NP_115495.3:p.Pro2348=
XM_017009963.2:c.7044T>A XP_016865452.1:p.Pro2348=
XM_017009964.2:c.7041T>A XP_016865453.1:p.Pro2347=
XM_017009965.1:c.7041T>A XP_016865454.1:p.Pro2347=
XM_017009966.2:c.6963T>A XP_016865455.1:p.Pro2321=
XM_017009967.1:c.6948T>A XP_016865456.1:p.Pro2316=
XM_017009968.2:c.7044T>A XP_016865457.1:p.Pro2348=
XM_017009969.2:c.7044T>A XP_016865458.1:p.Pro2348=
XM_017009970.2:c.7044T>A XP_016865459.1:p.Pro2348=
XM_017009971.2:c.7044T>A XP_016865460.1:p.Pro2348=
XM_017009972.1:c.162T>A XP_016865461.1:p.Pro54=
XM_017009973.1:c.162T>A XP_016865462.1:p.Pro54=
XM_017009974.2:c.7044T>A XP_016865463.1:p.Pro2348=
NR_003149.2:n.7060T>A