Canonical Allele Identifier: CA360414446

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90684169-T-A
• MyVariant Identifiers: chr5:g.89979986T>A (hg19) ; chr5:g.90684169T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684169T>A , CM000667.2:g.90684169T>A	GRCh38
NC_000005.9:g.89979986T>A , CM000667.1:g.89979986T>A	GRCh37
NC_000005.8:g.90015742T>A	NCBI36
NG_007083.1:g.130370T>A
NG_007083.2:g.159826T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6248T>A MANE Select	ENSP00000384582.2:p.Leu2083Ter
ENST00000639431.1:c.265+7960T>A	ENSP00000491057.1:n.265+7960T>A
ENST00000639473.1:n.1707T>A
ENST00000640012.1:c.165-1611T>A
ENST00000640403.1:c.3539T>A	ENSP00000492531.1:p.Leu1180Ter
ENST00000640779.1:c.1060T>A
ENST00000405460.6:c.6248T>A	ENSP00000384582.2:p.Leu2083Ter
NM_032119.3:c.6248T>A	NP_115495.3:p.Leu2083Ter
NR_003149.1:n.6344T>A
XM_011543675.1:c.6245T>A	XP_011541977.1:p.Leu2082Ter
XM_011543676.1:c.6167T>A	XP_011541978.1:p.Leu2056Ter
XM_011543677.1:c.3551T>A	XP_011541979.1:p.Leu1184Ter
XM_011543678.1:c.6248T>A	XP_011541980.1:p.Leu2083Ter
XM_011543679.1:c.6248T>A	XP_011541981.1:p.Leu2083Ter
NM_032119.4:c.6248T>A MANE Select	NP_115495.3:p.Leu2083Ter
XM_017009963.2:c.6248T>A	XP_016865452.1:p.Leu2083Ter
XM_017009964.2:c.6245T>A	XP_016865453.1:p.Leu2082Ter
XM_017009965.1:c.6245T>A	XP_016865454.1:p.Leu2082Ter
XM_017009966.2:c.6167T>A	XP_016865455.1:p.Leu2056Ter
XM_017009967.1:c.6152T>A	XP_016865456.1:p.Leu2051Ter
XM_017009968.2:c.6248T>A	XP_016865457.1:p.Leu2083Ter
XM_017009969.2:c.6248T>A	XP_016865458.1:p.Leu2083Ter
XM_017009970.2:c.6248T>A	XP_016865459.1:p.Leu2083Ter
XM_017009971.2:c.6248T>A	XP_016865460.1:p.Leu2083Ter
XM_017009973.1:c.-552T>A	XP_016865462.1:n.-552T>A
XM_017009974.2:c.6248T>A	XP_016865463.1:p.Leu2083Ter
NR_003149.2:n.6347T>A