Canonical Allele Identifier: CA246506

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763392G>A , CM000667.2:g.90763392G>A	GRCh38
NC_000005.9:g.90059209G>A , CM000667.1:g.90059209G>A	GRCh37
NC_000005.8:g.90094965G>A	NCBI36
NG_007083.1:g.209593G>A
NG_007083.2:g.239049G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12208G>A MANE Select	NP_115495.3:p.Val4070Ile
ENST00000405460.9:c.12208G>A MANE Select	ENSP00000384582.2:p.Val4070Ile
NM_032119.3:c.12208G>A	NP_115495.3:p.Val4070Ile
NR_003149.1:n.12221G>A
NR_003149.2:n.12224G>A
ENST00000405460.6:c.12208G>A	ENSP00000384582.2:p.Val4070Ile
ENST00000425867.3:c.1162G>A	ENSP00000392618.3:p.Val388Ile
ENST00000639431.1:c.265+87183G>A	ENSP00000491057.1:n.265+87183G>A
ENST00000640464.1:n.2627G>A
ENST00000640729.1:n.785G>A
XM_011543675.1:c.12205G>A	XP_011541977.1:p.Val4069Ile
XM_011543676.1:c.12127G>A	XP_011541978.1:p.Val4043Ile
XM_011543677.1:c.9511G>A	XP_011541979.1:p.Val3171Ile
XM_011543678.1:c.12208G>A	XP_011541980.1:p.Val4070Ile
XM_017009963.2:c.12229G>A	XP_016865452.1:p.Val4077Ile
XM_017009964.2:c.12226G>A	XP_016865453.1:p.Val4076Ile
XM_017009965.1:c.12226G>A	XP_016865454.1:p.Val4076Ile
XM_017009966.2:c.12148G>A	XP_016865455.1:p.Val4050Ile
XM_017009967.1:c.12133G>A	XP_016865456.1:p.Val4045Ile
XM_017009968.2:c.12229G>A	XP_016865457.1:p.Val4077Ile
XM_017009969.2:c.12229G>A	XP_016865458.1:p.Val4077Ile
XM_017009970.2:c.12229G>A	XP_016865459.1:p.Val4077Ile
XM_017009971.2:c.12229G>A	XP_016865460.1:p.Val4077Ile
XM_017009972.1:c.5347G>A	XP_016865461.1:p.Val1783Ile
XM_017009973.1:c.5326G>A	XP_016865462.1:p.Val1776Ile