Canonical Allele Identifier: CA360371421

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1404180273
• gnomAD v2: 5-89988519-G-T
• MyVariant Identifiers: chr5:g.89988519G>T (hg19) ; chr5:g.90692702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692702G>T , CM000667.2:g.90692702G>T	GRCh38
NC_000005.9:g.89988519G>T , CM000667.1:g.89988519G>T	GRCh37
NC_000005.8:g.90024275G>T	NCBI36
NG_007083.1:g.138903G>T
NG_007083.2:g.168359G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7049G>T MANE Select	ENSP00000384582.2:p.Gly2350Val
ENST00000639431.1:c.265+16493G>T	ENSP00000491057.1:n.265+16493G>T
ENST00000639473.1:n.2508G>T
ENST00000640012.1:c.856G>T
ENST00000640374.1:n.193G>T
ENST00000640403.1:c.4340G>T	ENSP00000492531.1:p.Gly1447Val
ENST00000640779.1:c.1778G>T
ENST00000405460.6:c.7049G>T	ENSP00000384582.2:p.Gly2350Val
NM_032119.3:c.7049G>T	NP_115495.3:p.Gly2350Val
NR_003149.1:n.7062G>T
XM_011543675.1:c.7046G>T	XP_011541977.1:p.Gly2349Val
XM_011543676.1:c.6968G>T	XP_011541978.1:p.Gly2323Val
XM_011543677.1:c.4352G>T	XP_011541979.1:p.Gly1451Val
XM_011543678.1:c.7049G>T	XP_011541980.1:p.Gly2350Val
XM_011543679.1:c.7049G>T	XP_011541981.1:p.Gly2350Val
NM_032119.4:c.7049G>T MANE Select	NP_115495.3:p.Gly2350Val
XM_017009963.2:c.7049G>T	XP_016865452.1:p.Gly2350Val
XM_017009964.2:c.7046G>T	XP_016865453.1:p.Gly2349Val
XM_017009965.1:c.7046G>T	XP_016865454.1:p.Gly2349Val
XM_017009966.2:c.6968G>T	XP_016865455.1:p.Gly2323Val
XM_017009967.1:c.6953G>T	XP_016865456.1:p.Gly2318Val
XM_017009968.2:c.7049G>T	XP_016865457.1:p.Gly2350Val
XM_017009969.2:c.7049G>T	XP_016865458.1:p.Gly2350Val
XM_017009970.2:c.7049G>T	XP_016865459.1:p.Gly2350Val
XM_017009971.2:c.7049G>T	XP_016865460.1:p.Gly2350Val
XM_017009972.1:c.167G>T	XP_016865461.1:p.Gly56Val
XM_017009973.1:c.167G>T	XP_016865462.1:p.Gly56Val
XM_017009974.2:c.7049G>T	XP_016865463.1:p.Gly2350Val
NR_003149.2:n.7065G>T