Canonical Allele Identifier: CA3339122

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90647678G>A , CM000667.2:g.90647678G>A	GRCh38
NC_000005.9:g.89943495G>A , CM000667.1:g.89943495G>A	GRCh37
NC_000005.8:g.89979251G>A	NCBI36
NG_007083.1:g.93879G>A
NG_007083.2:g.123335G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.3203G>A MANE Select	NP_115495.3:p.Arg1068Lys
ENST00000405460.9:c.3203G>A MANE Select	ENSP00000384582.2:p.Arg1068Lys
NM_032119.3:c.3203G>A	NP_115495.3:p.Arg1068Lys
NR_003149.1:n.3299G>A
NR_003149.2:n.3302G>A
ENST00000405460.6:c.3203G>A	ENSP00000384582.2:p.Arg1068Lys
ENST00000504142.1:c.1968G>A
ENST00000504142.2:n.1969G>A
ENST00000639676.1:n.801G>A
ENST00000640403.1:c.506G>A	ENSP00000492531.1:p.Arg169Lys
XM_011543675.1:c.3203G>A	XP_011541977.1:p.Arg1068Lys
XM_011543676.1:c.3203G>A	XP_011541978.1:p.Arg1068Lys
XM_011543677.1:c.506G>A	XP_011541979.1:p.Arg169Lys
XM_011543678.1:c.3203G>A	XP_011541980.1:p.Arg1068Lys
XM_011543679.1:c.3203G>A	XP_011541981.1:p.Arg1068Lys
XM_017009963.2:c.3203G>A	XP_016865452.1:p.Arg1068Lys
XM_017009964.2:c.3203G>A	XP_016865453.1:p.Arg1068Lys
XM_017009965.1:c.3200G>A	XP_016865454.1:p.Arg1067Lys
XM_017009966.2:c.3203G>A	XP_016865455.1:p.Arg1068Lys
XM_017009967.1:c.3107G>A	XP_016865456.1:p.Arg1036Lys
XM_017009968.2:c.3203G>A	XP_016865457.1:p.Arg1068Lys
XM_017009969.2:c.3203G>A	XP_016865458.1:p.Arg1068Lys
XM_017009970.2:c.3203G>A	XP_016865459.1:p.Arg1068Lys
XM_017009971.2:c.3203G>A	XP_016865460.1:p.Arg1068Lys
XM_017009974.2:c.3203G>A	XP_016865463.1:p.Arg1068Lys