Canonical Allele Identifier: CA360399418

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720078G>T , CM000667.2:g.90720078G>T	GRCh38
NC_000005.9:g.90015895G>T , CM000667.1:g.90015895G>T	GRCh37
NC_000005.8:g.90051651G>T	NCBI36
NG_007083.1:g.166279G>T
NG_007083.2:g.195735G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9478G>T MANE Select	NP_115495.3:p.Glu3160Ter
ENST00000405460.9:c.9478G>T MANE Select	ENSP00000384582.2:p.Glu3160Ter
NM_032119.3:c.9478G>T	NP_115495.3:p.Glu3160Ter
NR_003149.1:n.9491G>T
NR_003149.2:n.9494G>T
ENST00000405460.6:c.9478G>T	ENSP00000384582.2:p.Glu3160Ter
ENST00000509621.1:c.2175G>T
ENST00000639431.1:c.265+43869G>T	ENSP00000491057.1:n.265+43869G>T
ENST00000640374.1:n.2622G>T
ENST00000640779.1:c.4207G>T
XM_011543675.1:c.9475G>T	XP_011541977.1:p.Glu3159Ter
XM_011543676.1:c.9397G>T	XP_011541978.1:p.Glu3133Ter
XM_011543677.1:c.6781G>T	XP_011541979.1:p.Glu2261Ter
XM_011543678.1:c.9478G>T	XP_011541980.1:p.Glu3160Ter
XM_011543679.1:c.9478G>T	XP_011541981.1:p.Glu3160Ter
XM_017009963.2:c.9499G>T	XP_016865452.1:p.Glu3167Ter
XM_017009964.2:c.9496G>T	XP_016865453.1:p.Glu3166Ter
XM_017009965.1:c.9496G>T	XP_016865454.1:p.Glu3166Ter
XM_017009966.2:c.9418G>T	XP_016865455.1:p.Glu3140Ter
XM_017009967.1:c.9403G>T	XP_016865456.1:p.Glu3135Ter
XM_017009968.2:c.9499G>T	XP_016865457.1:p.Glu3167Ter
XM_017009969.2:c.9499G>T	XP_016865458.1:p.Glu3167Ter
XM_017009970.2:c.9499G>T	XP_016865459.1:p.Glu3167Ter
XM_017009971.2:c.9499G>T	XP_016865460.1:p.Glu3167Ter
XM_017009972.1:c.2617G>T	XP_016865461.1:p.Glu873Ter
XM_017009973.1:c.2596G>T	XP_016865462.1:p.Glu866Ter
XM_017009974.2:c.9499G>T	XP_016865463.1:p.Glu3167Ter
XR_001742802.1:n.2523-4269C>A
XR_948560.1:n.272-4269C>A