Canonical Allele Identifier: CA3339716

Gene: ADGRV1

Linked Data

• dbSNP Id: rs759678636
• ExAC: 5:89979896 A / G
• gnomAD v2: 5-89979896-A-G
• gnomAD v4: 5-90684079-A-G
• MyVariant Identifiers: chr5:g.89979896A>G (hg19) ; chr5:g.90684079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684079A>G , CM000667.2:g.90684079A>G	GRCh38
NC_000005.9:g.89979896A>G , CM000667.1:g.89979896A>G	GRCh37
NC_000005.8:g.90015652A>G	NCBI36
NG_007083.1:g.130280A>G
NG_007083.2:g.159736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6158A>G MANE Select	ENSP00000384582.2:p.Gln2053Arg
ENST00000639431.1:c.265+7870A>G	ENSP00000491057.1:n.265+7870A>G
ENST00000639473.1:n.1617A>G
ENST00000640012.1:c.165-1701A>G
ENST00000640403.1:c.3449A>G	ENSP00000492531.1:p.Gln1150Arg
ENST00000640779.1:c.970A>G
ENST00000405460.6:c.6158A>G	ENSP00000384582.2:p.Gln2053Arg
NM_032119.3:c.6158A>G	NP_115495.3:p.Gln2053Arg
NR_003149.1:n.6254A>G
XM_011543675.1:c.6155A>G	XP_011541977.1:p.Gln2052Arg
XM_011543676.1:c.6077A>G	XP_011541978.1:p.Gln2026Arg
XM_011543677.1:c.3461A>G	XP_011541979.1:p.Gln1154Arg
XM_011543678.1:c.6158A>G	XP_011541980.1:p.Gln2053Arg
XM_011543679.1:c.6158A>G	XP_011541981.1:p.Gln2053Arg
NM_032119.4:c.6158A>G MANE Select	NP_115495.3:p.Gln2053Arg
XM_017009963.2:c.6158A>G	XP_016865452.1:p.Gln2053Arg
XM_017009964.2:c.6155A>G	XP_016865453.1:p.Gln2052Arg
XM_017009965.1:c.6155A>G	XP_016865454.1:p.Gln2052Arg
XM_017009966.2:c.6077A>G	XP_016865455.1:p.Gln2026Arg
XM_017009967.1:c.6062A>G	XP_016865456.1:p.Gln2021Arg
XM_017009968.2:c.6158A>G	XP_016865457.1:p.Gln2053Arg
XM_017009969.2:c.6158A>G	XP_016865458.1:p.Gln2053Arg
XM_017009970.2:c.6158A>G	XP_016865459.1:p.Gln2053Arg
XM_017009971.2:c.6158A>G	XP_016865460.1:p.Gln2053Arg
XM_017009973.1:c.-642A>G	XP_016865462.1:n.-642A>G
XM_017009974.2:c.6158A>G	XP_016865463.1:p.Gln2053Arg
NR_003149.2:n.6257A>G