Canonical Allele Identifier: CA176205

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 163588
• ClinVar RCV Id: RCV000150766 ; RCV000724883 ; RCV001157221
• dbSNP Id: rs201481219
• ExAC: 5:90012552 G / A
• gnomAD v2: 5-90012552-G-A
• gnomAD v3: 5-90716735-G-A
• gnomAD v4: 5-90716735-G-A
• MyVariant Identifiers: chr5:g.90012552G>A (hg19) ; chr5:g.90716735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716735G>A , CM000667.2:g.90716735G>A	GRCh38
NC_000005.9:g.90012552G>A , CM000667.1:g.90012552G>A	GRCh37
NC_000005.8:g.90048308G>A	NCBI36
NG_007083.1:g.162936G>A
NG_007083.2:g.192392G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9447+6G>A MANE Select	ENSP00000384582.2:n.9447+6G>A
ENST00000639431.1:c.265+40526G>A	ENSP00000491057.1:n.265+40526G>A
ENST00000639473.1:n.4912G>A
ENST00000640374.1:n.2591+6G>A
ENST00000640779.1:c.4176+6G>A
ENST00000405460.6:c.9447+6G>A	ENSP00000384582.2:n.9447+6G>A
ENST00000509621.1:c.2144+6G>A
NM_032119.3:c.9447+6G>A	NP_115495.3:n.9447+6G>A
NR_003149.1:n.9460+6G>A
XM_011543675.1:c.9444+6G>A	XP_011541977.1:n.9444+6G>A
XM_011543676.1:c.9366+6G>A	XP_011541978.1:n.9366+6G>A
XM_011543677.1:c.6750+6G>A	XP_011541979.1:n.6750+6G>A
XM_011543678.1:c.9447+6G>A	XP_011541980.1:n.9447+6G>A
XM_011543679.1:c.9447+6G>A	XP_011541981.1:n.9447+6G>A
XR_948560.1:n.272-926C>T
NM_032119.4:c.9447+6G>A MANE Select	NP_115495.3:n.9447+6G>A
XM_017009963.2:c.9468+6G>A	XP_016865452.1:n.9468+6G>A
XM_017009964.2:c.9465+6G>A	XP_016865453.1:n.9465+6G>A
XM_017009965.1:c.9465+6G>A	XP_016865454.1:n.9465+6G>A
XM_017009966.2:c.9387+6G>A	XP_016865455.1:n.9387+6G>A
XM_017009967.1:c.9372+6G>A	XP_016865456.1:n.9372+6G>A
XM_017009968.2:c.9468+6G>A	XP_016865457.1:n.9468+6G>A
XM_017009969.2:c.9468+6G>A	XP_016865458.1:n.9468+6G>A
XM_017009970.2:c.9468+6G>A	XP_016865459.1:n.9468+6G>A
XM_017009971.2:c.9468+6G>A	XP_016865460.1:n.9468+6G>A
XM_017009972.1:c.2586+6G>A	XP_016865461.1:n.2586+6G>A
XM_017009973.1:c.2565+6G>A	XP_016865462.1:n.2565+6G>A
XM_017009974.2:c.9468+6G>A	XP_016865463.1:n.9468+6G>A
XR_001742802.1:n.2523-926C>T
NR_003149.2:n.9463+6G>A