Canonical Allele Identifier: CA243654

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90690054T>A , CM000667.2:g.90690054T>A	GRCh38
NC_000005.9:g.89985871T>A , CM000667.1:g.89985871T>A	GRCh37
NC_000005.8:g.90021627T>A	NCBI36
NG_007083.1:g.136255T>A
NG_007083.2:g.165711T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6684T>A MANE Select	NP_115495.3:p.Ser2228=
ENST00000405460.9:c.6684T>A MANE Select	ENSP00000384582.2:p.Ser2228=
NM_032119.3:c.6684T>A	NP_115495.3:p.Ser2228=
NR_003149.1:n.6780T>A
NR_003149.2:n.6783T>A
ENST00000405460.6:c.6684T>A	ENSP00000384582.2:p.Ser2228=
ENST00000639431.1:c.265+13845T>A	ENSP00000491057.1:n.265+13845T>A
ENST00000639473.1:n.2143T>A
ENST00000640012.1:c.574T>A
ENST00000640403.1:c.3975T>A	ENSP00000492531.1:p.Ser1325=
ENST00000640779.1:c.1496T>A
XM_011543675.1:c.6681T>A	XP_011541977.1:p.Ser2227=
XM_011543676.1:c.6603T>A	XP_011541978.1:p.Ser2201=
XM_011543677.1:c.3987T>A	XP_011541979.1:p.Ser1329=
XM_011543678.1:c.6684T>A	XP_011541980.1:p.Ser2228=
XM_011543679.1:c.6684T>A	XP_011541981.1:p.Ser2228=
XM_017009963.2:c.6684T>A	XP_016865452.1:p.Ser2228=
XM_017009964.2:c.6681T>A	XP_016865453.1:p.Ser2227=
XM_017009965.1:c.6681T>A	XP_016865454.1:p.Ser2227=
XM_017009966.2:c.6603T>A	XP_016865455.1:p.Ser2201=
XM_017009967.1:c.6588T>A	XP_016865456.1:p.Ser2196=
XM_017009968.2:c.6684T>A	XP_016865457.1:p.Ser2228=
XM_017009969.2:c.6684T>A	XP_016865458.1:p.Ser2228=
XM_017009970.2:c.6684T>A	XP_016865459.1:p.Ser2228=
XM_017009971.2:c.6684T>A	XP_016865460.1:p.Ser2228=
XM_017009972.1:c.-116T>A	XP_016865461.1:n.-116T>A
XM_017009973.1:c.-116T>A	XP_016865462.1:n.-116T>A
XM_017009974.2:c.6684T>A	XP_016865463.1:p.Ser2228=