Canonical Allele Identifier: CA360396317

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712376-G-T
• MyVariant Identifiers: chr5:g.90008193G>T (hg19) ; chr5:g.90712376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712376G>T , CM000667.2:g.90712376G>T	GRCh38
NC_000005.9:g.90008193G>T , CM000667.1:g.90008193G>T	GRCh37
NC_000005.8:g.90043949G>T	NCBI36
NG_007083.1:g.158577G>T
NG_007083.2:g.188033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9132G>T MANE Select	ENSP00000384582.2:p.Gln3044His
ENST00000639431.1:c.265+36167G>T	ENSP00000491057.1:n.265+36167G>T
ENST00000639473.1:n.4591G>T
ENST00000640012.1:c.2939G>T
ENST00000640374.1:n.2276G>T
ENST00000640779.1:c.3861G>T
ENST00000405460.6:c.9132G>T	ENSP00000384582.2:p.Gln3044His
ENST00000509621.1:c.1829G>T
NM_032119.3:c.9132G>T	NP_115495.3:p.Gln3044His
NR_003149.1:n.9145G>T
XM_011543675.1:c.9129G>T	XP_011541977.1:p.Gln3043His
XM_011543676.1:c.9051G>T	XP_011541978.1:p.Gln3017His
XM_011543677.1:c.6435G>T	XP_011541979.1:p.Gln2145His
XM_011543678.1:c.9132G>T	XP_011541980.1:p.Gln3044His
XM_011543679.1:c.9132G>T	XP_011541981.1:p.Gln3044His
NM_032119.4:c.9132G>T MANE Select	NP_115495.3:p.Gln3044His
XM_017009963.2:c.9153G>T	XP_016865452.1:p.Gln3051His
XM_017009964.2:c.9150G>T	XP_016865453.1:p.Gln3050His
XM_017009965.1:c.9150G>T	XP_016865454.1:p.Gln3050His
XM_017009966.2:c.9072G>T	XP_016865455.1:p.Gln3024His
XM_017009967.1:c.9057G>T	XP_016865456.1:p.Gln3019His
XM_017009968.2:c.9153G>T	XP_016865457.1:p.Gln3051His
XM_017009969.2:c.9153G>T	XP_016865458.1:p.Gln3051His
XM_017009970.2:c.9153G>T	XP_016865459.1:p.Gln3051His
XM_017009971.2:c.9153G>T	XP_016865460.1:p.Gln3051His
XM_017009972.1:c.2271G>T	XP_016865461.1:p.Gln757His
XM_017009973.1:c.2250G>T	XP_016865462.1:p.Gln750His
XM_017009974.2:c.9153G>T	XP_016865463.1:p.Gln3051His
NR_003149.2:n.9148G>T