Canonical Allele Identifier: CA360401111

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90721047G>A , CM000667.2:g.90721047G>A	GRCh38
NC_000005.9:g.90016864G>A , CM000667.1:g.90016864G>A	GRCh37
NC_000005.8:g.90052620G>A	NCBI36
NG_007083.1:g.167248G>A
NG_007083.2:g.196704G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9736G>A MANE Select	NP_115495.3:p.Ala3246Thr
ENST00000405460.9:c.9736G>A MANE Select	ENSP00000384582.2:p.Ala3246Thr
NM_032119.3:c.9736G>A	NP_115495.3:p.Ala3246Thr
NR_003149.1:n.9749G>A
NR_003149.2:n.9752G>A
ENST00000405460.6:c.9736G>A	ENSP00000384582.2:p.Ala3246Thr
ENST00000509621.1:c.2433G>A
ENST00000639431.1:c.265+44838G>A	ENSP00000491057.1:n.265+44838G>A
ENST00000640374.1:n.2880G>A
ENST00000640464.1:n.155G>A
ENST00000640779.1:c.4465G>A
XM_011543675.1:c.9733G>A	XP_011541977.1:p.Ala3245Thr
XM_011543676.1:c.9655G>A	XP_011541978.1:p.Ala3219Thr
XM_011543677.1:c.7039G>A	XP_011541979.1:p.Ala2347Thr
XM_011543678.1:c.9736G>A	XP_011541980.1:p.Ala3246Thr
XM_011543679.1:c.9736G>A	XP_011541981.1:p.Ala3246Thr
XM_017009963.2:c.9757G>A	XP_016865452.1:p.Ala3253Thr
XM_017009964.2:c.9754G>A	XP_016865453.1:p.Ala3252Thr
XM_017009965.1:c.9754G>A	XP_016865454.1:p.Ala3252Thr
XM_017009966.2:c.9676G>A	XP_016865455.1:p.Ala3226Thr
XM_017009967.1:c.9661G>A	XP_016865456.1:p.Ala3221Thr
XM_017009968.2:c.9757G>A	XP_016865457.1:p.Ala3253Thr
XM_017009969.2:c.9757G>A	XP_016865458.1:p.Ala3253Thr
XM_017009970.2:c.9757G>A	XP_016865459.1:p.Ala3253Thr
XM_017009971.2:c.9757G>A	XP_016865460.1:p.Ala3253Thr
XM_017009972.1:c.2875G>A	XP_016865461.1:p.Ala959Thr
XM_017009973.1:c.2854G>A	XP_016865462.1:p.Ala952Thr
XM_017009974.2:c.9757G>A	XP_016865463.1:p.Ala3253Thr
XR_001742802.1:n.2523-5238C>T
XR_948560.1:n.272-5238C>T