Canonical Allele Identifier: CA3340344

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90708831C>T , CM000667.2:g.90708831C>T	GRCh38
NC_000005.9:g.90004648C>T , CM000667.1:g.90004648C>T	GRCh37
NC_000005.8:g.90040404C>T	NCBI36
NG_007083.1:g.155032C>T
NG_007083.2:g.184488C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.8746C>T MANE Select	NP_115495.3:p.Leu2916=
ENST00000405460.9:c.8746C>T MANE Select	ENSP00000384582.2:p.Leu2916=
NM_032119.3:c.8746C>T	NP_115495.3:p.Leu2916=
NR_003149.1:n.8759C>T
NR_003149.2:n.8762C>T
ENST00000405460.6:c.8746C>T	ENSP00000384582.2:p.Leu2916=
ENST00000509621.1:c.1443C>T
ENST00000639431.1:c.265+32622C>T	ENSP00000491057.1:n.265+32622C>T
ENST00000639473.1:n.4205C>T
ENST00000640012.1:c.2553C>T
ENST00000640374.1:n.1890C>T
ENST00000640403.1:c.6037C>T	ENSP00000492531.1:p.Leu2013=
ENST00000640779.1:c.3475C>T
XM_011543675.1:c.8743C>T	XP_011541977.1:p.Leu2915=
XM_011543676.1:c.8665C>T	XP_011541978.1:p.Leu2889=
XM_011543677.1:c.6049C>T	XP_011541979.1:p.Leu2017=
XM_011543678.1:c.8746C>T	XP_011541980.1:p.Leu2916=
XM_011543679.1:c.8746C>T	XP_011541981.1:p.Leu2916=
XM_017009963.2:c.8767C>T	XP_016865452.1:p.Leu2923=
XM_017009964.2:c.8764C>T	XP_016865453.1:p.Leu2922=
XM_017009965.1:c.8764C>T	XP_016865454.1:p.Leu2922=
XM_017009966.2:c.8686C>T	XP_016865455.1:p.Leu2896=
XM_017009967.1:c.8671C>T	XP_016865456.1:p.Leu2891=
XM_017009968.2:c.8767C>T	XP_016865457.1:p.Leu2923=
XM_017009969.2:c.8767C>T	XP_016865458.1:p.Leu2923=
XM_017009970.2:c.8767C>T	XP_016865459.1:p.Leu2923=
XM_017009971.2:c.8767C>T	XP_016865460.1:p.Leu2923=
XM_017009972.1:c.1885C>T	XP_016865461.1:p.Leu629=
XM_017009973.1:c.1864C>T	XP_016865462.1:p.Leu622=
XM_017009974.2:c.8767C>T	XP_016865463.1:p.Leu2923=