Canonical Allele Identifier: CA3339729

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684156C>T , CM000667.2:g.90684156C>T	GRCh38
NC_000005.9:g.89979973C>T , CM000667.1:g.89979973C>T	GRCh37
NC_000005.8:g.90015729C>T	NCBI36
NG_007083.1:g.130357C>T
NG_007083.2:g.159813C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6235C>T MANE Select	NP_115495.3:p.Leu2079Phe
ENST00000405460.9:c.6235C>T MANE Select	ENSP00000384582.2:p.Leu2079Phe
NM_032119.3:c.6235C>T	NP_115495.3:p.Leu2079Phe
NR_003149.1:n.6331C>T
NR_003149.2:n.6334C>T
ENST00000405460.6:c.6235C>T	ENSP00000384582.2:p.Leu2079Phe
ENST00000639431.1:c.265+7947C>T	ENSP00000491057.1:n.265+7947C>T
ENST00000639473.1:n.1694C>T
ENST00000640012.1:c.165-1624C>T
ENST00000640403.1:c.3526C>T	ENSP00000492531.1:p.Leu1176Phe
ENST00000640779.1:c.1047C>T
XM_011543675.1:c.6232C>T	XP_011541977.1:p.Leu2078Phe
XM_011543676.1:c.6154C>T	XP_011541978.1:p.Leu2052Phe
XM_011543677.1:c.3538C>T	XP_011541979.1:p.Leu1180Phe
XM_011543678.1:c.6235C>T	XP_011541980.1:p.Leu2079Phe
XM_011543679.1:c.6235C>T	XP_011541981.1:p.Leu2079Phe
XM_017009963.2:c.6235C>T	XP_016865452.1:p.Leu2079Phe
XM_017009964.2:c.6232C>T	XP_016865453.1:p.Leu2078Phe
XM_017009965.1:c.6232C>T	XP_016865454.1:p.Leu2078Phe
XM_017009966.2:c.6154C>T	XP_016865455.1:p.Leu2052Phe
XM_017009967.1:c.6139C>T	XP_016865456.1:p.Leu2047Phe
XM_017009968.2:c.6235C>T	XP_016865457.1:p.Leu2079Phe
XM_017009969.2:c.6235C>T	XP_016865458.1:p.Leu2079Phe
XM_017009970.2:c.6235C>T	XP_016865459.1:p.Leu2079Phe
XM_017009971.2:c.6235C>T	XP_016865460.1:p.Leu2079Phe
XM_017009973.1:c.-565C>T	XP_016865462.1:n.-565C>T
XM_017009974.2:c.6235C>T	XP_016865463.1:p.Leu2079Phe