Canonical Allele Identifier: CA176246

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 163624
• ClinVar RCV Id: RCV000150789 ; RCV001035642 ; RCV001152167
• dbSNP Id: rs201677553
• ExAC: 5:90136482 G / A
• gnomAD v2: 5-90136482-G-A
• gnomAD v3: 5-90840665-G-A
• gnomAD v4: 5-90840665-G-A
• MyVariant Identifiers: chr5:g.90136482G>A (hg19) ; chr5:g.90840665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90840665G>A , CM000667.2:g.90840665G>A	GRCh38
NC_000005.9:g.90136482G>A , CM000667.1:g.90136482G>A	GRCh37
NC_000005.8:g.90172238G>A	NCBI36
NG_007083.1:g.286866G>A
NG_007083.2:g.316322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16699G>A MANE Select	ENSP00000384582.2:p.Val5567Ile
ENST00000425867.3:c.5653G>A	ENSP00000392618.3:p.Val1885Ile
ENST00000638510.1:n.3966G>A
ENST00000639431.1:c.266-144679G>A	ENSP00000491057.1:n.266-144679G>A
ENST00000640061.1:n.216G>A
ENST00000640407.1:c.3148G>A	ENSP00000491425.1:n.3148G>A
ENST00000405460.6:c.16699G>A	ENSP00000384582.2:p.Val5567Ile
ENST00000425867.2:c.3682G>A	ENSP00000392618.2:p.Val1228Ile
NM_032119.3:c.16699G>A	NP_115495.3:p.Val5567Ile
NR_003149.1:n.16712G>A
XM_011543675.1:c.16696G>A	XP_011541977.1:p.Val5566Ile
XM_011543676.1:c.16618G>A	XP_011541978.1:p.Val5540Ile
XM_011543677.1:c.14002G>A	XP_011541979.1:p.Val4668Ile
NM_032119.4:c.16699G>A MANE Select	NP_115495.3:p.Val5567Ile
XM_017009963.2:c.16720G>A	XP_016865452.1:p.Val5574Ile
XM_017009964.2:c.16717G>A	XP_016865453.1:p.Val5573Ile
XM_017009965.1:c.16717G>A	XP_016865454.1:p.Val5573Ile
XM_017009966.2:c.16639G>A	XP_016865455.1:p.Val5547Ile
XM_017009967.1:c.16624G>A	XP_016865456.1:p.Val5542Ile
XM_017009968.2:c.16540G>A	XP_016865457.1:p.Val5514Ile
XM_017009969.2:c.16720G>A	XP_016865458.1:p.Val5574Ile
XM_017009972.1:c.9838G>A	XP_016865461.1:p.Val3280Ile
XM_017009973.1:c.9817G>A	XP_016865462.1:p.Val3273Ile
NR_003149.2:n.16715G>A