Canonical Allele Identifier: CA3341211

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90774197G>C , CM000667.2:g.90774197G>C	GRCh38
NC_000005.9:g.90070014G>C , CM000667.1:g.90070014G>C	GRCh37
NC_000005.8:g.90105770G>C	NCBI36
NG_007083.1:g.220398G>C
NG_007083.2:g.249854G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12297G>C MANE Select	NP_115495.3:p.Gln4099His
ENST00000405460.9:c.12297G>C MANE Select	ENSP00000384582.2:p.Gln4099His
NM_032119.3:c.12297G>C	NP_115495.3:p.Gln4099His
NR_003149.1:n.12310G>C
NR_003149.2:n.12313G>C
ENST00000405460.6:c.12297G>C	ENSP00000384582.2:p.Gln4099His
ENST00000425867.3:c.1251G>C	ENSP00000392618.3:p.Gln417His
ENST00000639431.1:c.265+97988G>C	ENSP00000491057.1:n.265+97988G>C
ENST00000640464.1:n.2716G>C
ENST00000640729.1:n.874G>C
XM_011543675.1:c.12294G>C	XP_011541977.1:p.Gln4098His
XM_011543676.1:c.12216G>C	XP_011541978.1:p.Gln4072His
XM_011543677.1:c.9600G>C	XP_011541979.1:p.Gln3200His
XM_011543678.1:c.12297G>C	XP_011541980.1:p.Gln4099His
XM_017009963.2:c.12318G>C	XP_016865452.1:p.Gln4106His
XM_017009964.2:c.12315G>C	XP_016865453.1:p.Gln4105His
XM_017009965.1:c.12315G>C	XP_016865454.1:p.Gln4105His
XM_017009966.2:c.12237G>C	XP_016865455.1:p.Gln4079His
XM_017009967.1:c.12222G>C	XP_016865456.1:p.Gln4074His
XM_017009968.2:c.12318G>C	XP_016865457.1:p.Gln4106His
XM_017009969.2:c.12318G>C	XP_016865458.1:p.Gln4106His
XM_017009970.2:c.12318G>C	XP_016865459.1:p.Gln4106His
XM_017009971.2:c.12318G>C	XP_016865460.1:p.Gln4106His
XM_017009972.1:c.5436G>C	XP_016865461.1:p.Gln1812His
XM_017009973.1:c.5415G>C	XP_016865462.1:p.Gln1805His