Canonical Allele Identifier: CA3339862

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90690817A>C , CM000667.2:g.90690817A>C	GRCh38
NC_000005.9:g.89986634A>C , CM000667.1:g.89986634A>C	GRCh37
NC_000005.8:g.90022390A>C	NCBI36
NG_007083.1:g.137018A>C
NG_007083.2:g.166474A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6727A>C MANE Select	NP_115495.3:p.Ile2243Leu
ENST00000405460.9:c.6727A>C MANE Select	ENSP00000384582.2:p.Ile2243Leu
NM_032119.3:c.6727A>C	NP_115495.3:p.Ile2243Leu
NR_003149.1:n.6823A>C
NR_003149.2:n.6826A>C
ENST00000405460.6:c.6727A>C	ENSP00000384582.2:p.Ile2243Leu
ENST00000639431.1:c.265+14608A>C	ENSP00000491057.1:n.265+14608A>C
ENST00000639473.1:n.2186A>C
ENST00000640012.1:c.617A>C
ENST00000640403.1:c.4018A>C	ENSP00000492531.1:p.Ile1340Leu
ENST00000640779.1:c.1539A>C
XM_011543675.1:c.6724A>C	XP_011541977.1:p.Ile2242Leu
XM_011543676.1:c.6646A>C	XP_011541978.1:p.Ile2216Leu
XM_011543677.1:c.4030A>C	XP_011541979.1:p.Ile1344Leu
XM_011543678.1:c.6727A>C	XP_011541980.1:p.Ile2243Leu
XM_011543679.1:c.6727A>C	XP_011541981.1:p.Ile2243Leu
XM_017009963.2:c.6727A>C	XP_016865452.1:p.Ile2243Leu
XM_017009964.2:c.6724A>C	XP_016865453.1:p.Ile2242Leu
XM_017009965.1:c.6724A>C	XP_016865454.1:p.Ile2242Leu
XM_017009966.2:c.6646A>C	XP_016865455.1:p.Ile2216Leu
XM_017009967.1:c.6631A>C	XP_016865456.1:p.Ile2211Leu
XM_017009968.2:c.6727A>C	XP_016865457.1:p.Ile2243Leu
XM_017009969.2:c.6727A>C	XP_016865458.1:p.Ile2243Leu
XM_017009970.2:c.6727A>C	XP_016865459.1:p.Ile2243Leu
XM_017009971.2:c.6727A>C	XP_016865460.1:p.Ile2243Leu
XM_017009972.1:c.-73A>C	XP_016865461.1:n.-73A>C
XM_017009973.1:c.-73A>C	XP_016865462.1:n.-73A>C
XM_017009974.2:c.6727A>C	XP_016865463.1:p.Ile2243Leu