Canonical Allele Identifier: CA3339414

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90672579G>A , CM000667.2:g.90672579G>A	GRCh38
NC_000005.9:g.89968396G>A , CM000667.1:g.89968396G>A	GRCh37
NC_000005.8:g.90004152G>A	NCBI36
NG_007083.1:g.118780G>A
NG_007083.2:g.148236G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.4786G>A MANE Select	NP_115495.3:p.Val1596Ile
ENST00000405460.9:c.4786G>A MANE Select	ENSP00000384582.2:p.Val1596Ile
NM_032119.3:c.4786G>A	NP_115495.3:p.Val1596Ile
NR_003149.1:n.4882G>A
NR_003149.2:n.4885G>A
ENST00000405460.6:c.4786G>A	ENSP00000384582.2:p.Val1596Ile
ENST00000450321.2:n.26G>A
ENST00000639473.1:n.245G>A
ENST00000639676.1:n.2384G>A
ENST00000640403.1:c.2077G>A	ENSP00000492531.1:p.Val693Ile
XM_011543675.1:c.4786G>A	XP_011541977.1:p.Val1596Ile
XM_011543676.1:c.4786G>A	XP_011541978.1:p.Val1596Ile
XM_011543677.1:c.2089G>A	XP_011541979.1:p.Val697Ile
XM_011543678.1:c.4786G>A	XP_011541980.1:p.Val1596Ile
XM_011543679.1:c.4786G>A	XP_011541981.1:p.Val1596Ile
XM_017009963.2:c.4786G>A	XP_016865452.1:p.Val1596Ile
XM_017009964.2:c.4786G>A	XP_016865453.1:p.Val1596Ile
XM_017009965.1:c.4783G>A	XP_016865454.1:p.Val1595Ile
XM_017009966.2:c.4786G>A	XP_016865455.1:p.Val1596Ile
XM_017009967.1:c.4690G>A	XP_016865456.1:p.Val1564Ile
XM_017009968.2:c.4786G>A	XP_016865457.1:p.Val1596Ile
XM_017009969.2:c.4786G>A	XP_016865458.1:p.Val1596Ile
XM_017009970.2:c.4786G>A	XP_016865459.1:p.Val1596Ile
XM_017009971.2:c.4786G>A	XP_016865460.1:p.Val1596Ile
XM_017009974.2:c.4786G>A	XP_016865463.1:p.Val1596Ile