Canonical Allele Identifier: CA138194

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90693906C>T , CM000667.2:g.90693906C>T	GRCh38
NC_000005.9:g.89989723C>T , CM000667.1:g.89989723C>T	GRCh37
NC_000005.8:g.90025479C>T	NCBI36
NG_007083.1:g.140107C>T
NG_007083.2:g.169563C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.7150C>T MANE Select	NP_115495.3:p.Arg2384Trp
ENST00000405460.9:c.7150C>T MANE Select	ENSP00000384582.2:p.Arg2384Trp
NM_032119.3:c.7150C>T	NP_115495.3:p.Arg2384Trp
NR_003149.1:n.7163C>T
NR_003149.2:n.7166C>T
ENST00000405460.6:c.7150C>T	ENSP00000384582.2:p.Arg2384Trp
ENST00000639431.1:c.265+17697C>T	ENSP00000491057.1:n.265+17697C>T
ENST00000639473.1:n.2609C>T
ENST00000640012.1:c.957C>T
ENST00000640374.1:n.294C>T
ENST00000640403.1:c.4441C>T	ENSP00000492531.1:p.Arg1481Trp
ENST00000640779.1:c.1879C>T
XM_011543675.1:c.7147C>T	XP_011541977.1:p.Arg2383Trp
XM_011543676.1:c.7069C>T	XP_011541978.1:p.Arg2357Trp
XM_011543677.1:c.4453C>T	XP_011541979.1:p.Arg1485Trp
XM_011543678.1:c.7150C>T	XP_011541980.1:p.Arg2384Trp
XM_011543679.1:c.7150C>T	XP_011541981.1:p.Arg2384Trp
XM_017009963.2:c.7150C>T	XP_016865452.1:p.Arg2384Trp
XM_017009964.2:c.7147C>T	XP_016865453.1:p.Arg2383Trp
XM_017009965.1:c.7147C>T	XP_016865454.1:p.Arg2383Trp
XM_017009966.2:c.7069C>T	XP_016865455.1:p.Arg2357Trp
XM_017009967.1:c.7054C>T	XP_016865456.1:p.Arg2352Trp
XM_017009968.2:c.7150C>T	XP_016865457.1:p.Arg2384Trp
XM_017009969.2:c.7150C>T	XP_016865458.1:p.Arg2384Trp
XM_017009970.2:c.7150C>T	XP_016865459.1:p.Arg2384Trp
XM_017009971.2:c.7150C>T	XP_016865460.1:p.Arg2384Trp
XM_017009972.1:c.268C>T	XP_016865461.1:p.Arg90Trp
XM_017009973.1:c.268C>T	XP_016865462.1:p.Arg90Trp
XM_017009974.2:c.7150C>T	XP_016865463.1:p.Arg2384Trp