Canonical Allele Identifier: CA360396168

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 843476
• ClinVar RCV Id: RCV001046116
• dbSNP Id: rs1426031335
• gnomAD v2: 5-90008129-G-T
• gnomAD v4: 5-90712312-G-T
• MyVariant Identifiers: chr5:g.90008129G>T (hg19) ; chr5:g.90712312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712312G>T , CM000667.2:g.90712312G>T	GRCh38
NC_000005.9:g.90008129G>T , CM000667.1:g.90008129G>T	GRCh37
NC_000005.8:g.90043885G>T	NCBI36
NG_007083.1:g.158513G>T
NG_007083.2:g.187969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9068G>T MANE Select	ENSP00000384582.2:p.Arg3023Met
ENST00000639431.1:c.265+36103G>T	ENSP00000491057.1:n.265+36103G>T
ENST00000639473.1:n.4527G>T
ENST00000640012.1:c.2875G>T
ENST00000640374.1:n.2212G>T
ENST00000640779.1:c.3797G>T
ENST00000405460.6:c.9068G>T	ENSP00000384582.2:p.Arg3023Met
ENST00000509621.1:c.1765G>T
NM_032119.3:c.9068G>T	NP_115495.3:p.Arg3023Met
NR_003149.1:n.9081G>T
XM_011543675.1:c.9065G>T	XP_011541977.1:p.Arg3022Met
XM_011543676.1:c.8987G>T	XP_011541978.1:p.Arg2996Met
XM_011543677.1:c.6371G>T	XP_011541979.1:p.Arg2124Met
XM_011543678.1:c.9068G>T	XP_011541980.1:p.Arg3023Met
XM_011543679.1:c.9068G>T	XP_011541981.1:p.Arg3023Met
NM_032119.4:c.9068G>T MANE Select	NP_115495.3:p.Arg3023Met
XM_017009963.2:c.9089G>T	XP_016865452.1:p.Arg3030Met
XM_017009964.2:c.9086G>T	XP_016865453.1:p.Arg3029Met
XM_017009965.1:c.9086G>T	XP_016865454.1:p.Arg3029Met
XM_017009966.2:c.9008G>T	XP_016865455.1:p.Arg3003Met
XM_017009967.1:c.8993G>T	XP_016865456.1:p.Arg2998Met
XM_017009968.2:c.9089G>T	XP_016865457.1:p.Arg3030Met
XM_017009969.2:c.9089G>T	XP_016865458.1:p.Arg3030Met
XM_017009970.2:c.9089G>T	XP_016865459.1:p.Arg3030Met
XM_017009971.2:c.9089G>T	XP_016865460.1:p.Arg3030Met
XM_017009972.1:c.2207G>T	XP_016865461.1:p.Arg736Met
XM_017009973.1:c.2186G>T	XP_016865462.1:p.Arg729Met
XM_017009974.2:c.9089G>T	XP_016865463.1:p.Arg3030Met
NR_003149.2:n.9084G>T