Canonical Allele Identifier: CA249286

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90681377G>A , CM000667.2:g.90681377G>A	GRCh38
NC_000005.9:g.89977194G>A , CM000667.1:g.89977194G>A	GRCh37
NC_000005.8:g.90012950G>A	NCBI36
NG_007083.1:g.127578G>A
NG_007083.2:g.157034G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.5587G>A MANE Select	NP_115495.3:p.Val1863Ile
ENST00000405460.9:c.5587G>A MANE Select	ENSP00000384582.2:p.Val1863Ile
NM_032119.3:c.5587G>A	NP_115495.3:p.Val1863Ile
NR_003149.1:n.5683G>A
NR_003149.2:n.5686G>A
ENST00000405460.6:c.5587G>A	ENSP00000384582.2:p.Val1863Ile
ENST00000639431.1:c.265+5168G>A	ENSP00000491057.1:n.265+5168G>A
ENST00000639473.1:n.1046G>A
ENST00000640012.1:c.87G>A
ENST00000640403.1:c.2878G>A	ENSP00000492531.1:p.Val960Ile
ENST00000640779.1:c.399G>A
XM_011543675.1:c.5584G>A	XP_011541977.1:p.Val1862Ile
XM_011543676.1:c.5506G>A	XP_011541978.1:p.Val1836Ile
XM_011543677.1:c.2890G>A	XP_011541979.1:p.Val964Ile
XM_011543678.1:c.5587G>A	XP_011541980.1:p.Val1863Ile
XM_011543679.1:c.5587G>A	XP_011541981.1:p.Val1863Ile
XM_017009963.2:c.5587G>A	XP_016865452.1:p.Val1863Ile
XM_017009964.2:c.5584G>A	XP_016865453.1:p.Val1862Ile
XM_017009965.1:c.5584G>A	XP_016865454.1:p.Val1862Ile
XM_017009966.2:c.5506G>A	XP_016865455.1:p.Val1836Ile
XM_017009967.1:c.5491G>A	XP_016865456.1:p.Val1831Ile
XM_017009968.2:c.5587G>A	XP_016865457.1:p.Val1863Ile
XM_017009969.2:c.5587G>A	XP_016865458.1:p.Val1863Ile
XM_017009970.2:c.5587G>A	XP_016865459.1:p.Val1863Ile
XM_017009971.2:c.5587G>A	XP_016865460.1:p.Val1863Ile
XM_017009973.1:c.-1213G>A	XP_016865462.1:n.-1213G>A
XM_017009974.2:c.5587G>A	XP_016865463.1:p.Val1863Ile