Canonical Allele Identifier: CA360396390

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712413-G-T
• MyVariant Identifiers: chr5:g.90008230G>T (hg19) ; chr5:g.90712413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712413G>T , CM000667.2:g.90712413G>T	GRCh38
NC_000005.9:g.90008230G>T , CM000667.1:g.90008230G>T	GRCh37
NC_000005.8:g.90043986G>T	NCBI36
NG_007083.1:g.158614G>T
NG_007083.2:g.188070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9169G>T MANE Select	ENSP00000384582.2:p.Gly3057Trp
ENST00000639431.1:c.265+36204G>T	ENSP00000491057.1:n.265+36204G>T
ENST00000639473.1:n.4628G>T
ENST00000640012.1:c.2976G>T
ENST00000640374.1:n.2313G>T
ENST00000640779.1:c.3898G>T
ENST00000405460.6:c.9169G>T	ENSP00000384582.2:p.Gly3057Trp
ENST00000509621.1:c.1866G>T
NM_032119.3:c.9169G>T	NP_115495.3:p.Gly3057Trp
NR_003149.1:n.9182G>T
XM_011543675.1:c.9166G>T	XP_011541977.1:p.Gly3056Trp
XM_011543676.1:c.9088G>T	XP_011541978.1:p.Gly3030Trp
XM_011543677.1:c.6472G>T	XP_011541979.1:p.Gly2158Trp
XM_011543678.1:c.9169G>T	XP_011541980.1:p.Gly3057Trp
XM_011543679.1:c.9169G>T	XP_011541981.1:p.Gly3057Trp
XR_948560.1:n.437-4C>A
NM_032119.4:c.9169G>T MANE Select	NP_115495.3:p.Gly3057Trp
XM_017009963.2:c.9190G>T	XP_016865452.1:p.Gly3064Trp
XM_017009964.2:c.9187G>T	XP_016865453.1:p.Gly3063Trp
XM_017009965.1:c.9187G>T	XP_016865454.1:p.Gly3063Trp
XM_017009966.2:c.9109G>T	XP_016865455.1:p.Gly3037Trp
XM_017009967.1:c.9094G>T	XP_016865456.1:p.Gly3032Trp
XM_017009968.2:c.9190G>T	XP_016865457.1:p.Gly3064Trp
XM_017009969.2:c.9190G>T	XP_016865458.1:p.Gly3064Trp
XM_017009970.2:c.9190G>T	XP_016865459.1:p.Gly3064Trp
XM_017009971.2:c.9190G>T	XP_016865460.1:p.Gly3064Trp
XM_017009972.1:c.2308G>T	XP_016865461.1:p.Gly770Trp
XM_017009973.1:c.2287G>T	XP_016865462.1:p.Gly763Trp
XM_017009974.2:c.9190G>T	XP_016865463.1:p.Gly3064Trp
NR_003149.2:n.9185G>T