Canonical Allele Identifier: CA122797038

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90690818T>C , CM000667.2:g.90690818T>C	GRCh38
NC_000005.9:g.89986635T>C , CM000667.1:g.89986635T>C	GRCh37
NC_000005.8:g.90022391T>C	NCBI36
NG_007083.1:g.137019T>C
NG_007083.2:g.166475T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6728T>C MANE Select	NP_115495.3:p.Ile2243Thr
ENST00000405460.9:c.6728T>C MANE Select	ENSP00000384582.2:p.Ile2243Thr
NM_032119.3:c.6728T>C	NP_115495.3:p.Ile2243Thr
NR_003149.1:n.6824T>C
NR_003149.2:n.6827T>C
ENST00000405460.6:c.6728T>C	ENSP00000384582.2:p.Ile2243Thr
ENST00000639431.1:c.265+14609T>C	ENSP00000491057.1:n.265+14609T>C
ENST00000639473.1:n.2187T>C
ENST00000640012.1:c.618T>C
ENST00000640403.1:c.4019T>C	ENSP00000492531.1:p.Ile1340Thr
ENST00000640779.1:c.1540T>C
XM_011543675.1:c.6725T>C	XP_011541977.1:p.Ile2242Thr
XM_011543676.1:c.6647T>C	XP_011541978.1:p.Ile2216Thr
XM_011543677.1:c.4031T>C	XP_011541979.1:p.Ile1344Thr
XM_011543678.1:c.6728T>C	XP_011541980.1:p.Ile2243Thr
XM_011543679.1:c.6728T>C	XP_011541981.1:p.Ile2243Thr
XM_017009963.2:c.6728T>C	XP_016865452.1:p.Ile2243Thr
XM_017009964.2:c.6725T>C	XP_016865453.1:p.Ile2242Thr
XM_017009965.1:c.6725T>C	XP_016865454.1:p.Ile2242Thr
XM_017009966.2:c.6647T>C	XP_016865455.1:p.Ile2216Thr
XM_017009967.1:c.6632T>C	XP_016865456.1:p.Ile2211Thr
XM_017009968.2:c.6728T>C	XP_016865457.1:p.Ile2243Thr
XM_017009969.2:c.6728T>C	XP_016865458.1:p.Ile2243Thr
XM_017009970.2:c.6728T>C	XP_016865459.1:p.Ile2243Thr
XM_017009971.2:c.6728T>C	XP_016865460.1:p.Ile2243Thr
XM_017009972.1:c.-72T>C	XP_016865461.1:n.-72T>C
XM_017009973.1:c.-72T>C	XP_016865462.1:n.-72T>C
XM_017009974.2:c.6728T>C	XP_016865463.1:p.Ile2243Thr