Canonical Allele Identifier: CA360414448

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684169T>G , CM000667.2:g.90684169T>G	GRCh38
NC_000005.9:g.89979986T>G , CM000667.1:g.89979986T>G	GRCh37
NC_000005.8:g.90015742T>G	NCBI36
NG_007083.1:g.130370T>G
NG_007083.2:g.159826T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6248T>G MANE Select	NP_115495.3:p.Leu2083Ter
ENST00000405460.9:c.6248T>G MANE Select	ENSP00000384582.2:p.Leu2083Ter
NM_032119.3:c.6248T>G	NP_115495.3:p.Leu2083Ter
NR_003149.1:n.6344T>G
NR_003149.2:n.6347T>G
ENST00000405460.6:c.6248T>G	ENSP00000384582.2:p.Leu2083Ter
ENST00000639431.1:c.265+7960T>G	ENSP00000491057.1:n.265+7960T>G
ENST00000639473.1:n.1707T>G
ENST00000640012.1:c.165-1611T>G
ENST00000640403.1:c.3539T>G	ENSP00000492531.1:p.Leu1180Ter
ENST00000640779.1:c.1060T>G
XM_011543675.1:c.6245T>G	XP_011541977.1:p.Leu2082Ter
XM_011543676.1:c.6167T>G	XP_011541978.1:p.Leu2056Ter
XM_011543677.1:c.3551T>G	XP_011541979.1:p.Leu1184Ter
XM_011543678.1:c.6248T>G	XP_011541980.1:p.Leu2083Ter
XM_011543679.1:c.6248T>G	XP_011541981.1:p.Leu2083Ter
XM_017009963.2:c.6248T>G	XP_016865452.1:p.Leu2083Ter
XM_017009964.2:c.6245T>G	XP_016865453.1:p.Leu2082Ter
XM_017009965.1:c.6245T>G	XP_016865454.1:p.Leu2082Ter
XM_017009966.2:c.6167T>G	XP_016865455.1:p.Leu2056Ter
XM_017009967.1:c.6152T>G	XP_016865456.1:p.Leu2051Ter
XM_017009968.2:c.6248T>G	XP_016865457.1:p.Leu2083Ter
XM_017009969.2:c.6248T>G	XP_016865458.1:p.Leu2083Ter
XM_017009970.2:c.6248T>G	XP_016865459.1:p.Leu2083Ter
XM_017009971.2:c.6248T>G	XP_016865460.1:p.Leu2083Ter
XM_017009973.1:c.-552T>G	XP_016865462.1:n.-552T>G
XM_017009974.2:c.6248T>G	XP_016865463.1:p.Leu2083Ter