Canonical Allele Identifier: CA3339968

Gene: ADGRV1

Linked Data

• dbSNP Id: rs369341309
• ExAC: 5:89988600 G / T
• gnomAD v2: 5-89988600-G-T
• gnomAD v3: 5-90692783-G-T
• gnomAD v4: 5-90692783-G-T
• MyVariant Identifiers: chr5:g.89988600G>T (hg19) ; chr5:g.90692783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692783G>T , CM000667.2:g.90692783G>T	GRCh38
NC_000005.9:g.89988600G>T , CM000667.1:g.89988600G>T	GRCh37
NC_000005.8:g.90024356G>T	NCBI36
NG_007083.1:g.138984G>T
NG_007083.2:g.168440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7130G>T MANE Select	ENSP00000384582.2:p.Arg2377Leu
ENST00000639431.1:c.265+16574G>T	ENSP00000491057.1:n.265+16574G>T
ENST00000639473.1:n.2589G>T
ENST00000640012.1:c.937G>T
ENST00000640374.1:n.274G>T
ENST00000640403.1:c.4421G>T	ENSP00000492531.1:p.Arg1474Leu
ENST00000640779.1:c.1859G>T
ENST00000405460.6:c.7130G>T	ENSP00000384582.2:p.Arg2377Leu
NM_032119.3:c.7130G>T	NP_115495.3:p.Arg2377Leu
NR_003149.1:n.7143G>T
XM_011543675.1:c.7127G>T	XP_011541977.1:p.Arg2376Leu
XM_011543676.1:c.7049G>T	XP_011541978.1:p.Arg2350Leu
XM_011543677.1:c.4433G>T	XP_011541979.1:p.Arg1478Leu
XM_011543678.1:c.7130G>T	XP_011541980.1:p.Arg2377Leu
XM_011543679.1:c.7130G>T	XP_011541981.1:p.Arg2377Leu
NM_032119.4:c.7130G>T MANE Select	NP_115495.3:p.Arg2377Leu
XM_017009963.2:c.7130G>T	XP_016865452.1:p.Arg2377Leu
XM_017009964.2:c.7127G>T	XP_016865453.1:p.Arg2376Leu
XM_017009965.1:c.7127G>T	XP_016865454.1:p.Arg2376Leu
XM_017009966.2:c.7049G>T	XP_016865455.1:p.Arg2350Leu
XM_017009967.1:c.7034G>T	XP_016865456.1:p.Arg2345Leu
XM_017009968.2:c.7130G>T	XP_016865457.1:p.Arg2377Leu
XM_017009969.2:c.7130G>T	XP_016865458.1:p.Arg2377Leu
XM_017009970.2:c.7130G>T	XP_016865459.1:p.Arg2377Leu
XM_017009971.2:c.7130G>T	XP_016865460.1:p.Arg2377Leu
XM_017009972.1:c.248G>T	XP_016865461.1:p.Arg83Leu
XM_017009973.1:c.248G>T	XP_016865462.1:p.Arg83Leu
XM_017009974.2:c.7130G>T	XP_016865463.1:p.Arg2377Leu
NR_003149.2:n.7146G>T