Canonical Allele Identifier: CA3341172

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2871292
• ClinVar RCV Id: RCV003698391
• dbSNP Id: rs181712943
• ExAC: 5:90059196 A / T
• gnomAD v2: 5-90059196-A-T
• gnomAD v4: 5-90763379-A-T
• MyVariant Identifiers: chr5:g.90059196A>T (hg19) ; chr5:g.90763379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763379A>T , CM000667.2:g.90763379A>T	GRCh38
NC_000005.9:g.90059196A>T , CM000667.1:g.90059196A>T	GRCh37
NC_000005.8:g.90094952A>T	NCBI36
NG_007083.1:g.209580A>T
NG_007083.2:g.239036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12195A>T MANE Select	ENSP00000384582.2:p.Gly4065=
ENST00000425867.3:c.1149A>T	ENSP00000392618.3:p.Gly383=
ENST00000639431.1:c.265+87170A>T	ENSP00000491057.1:n.265+87170A>T
ENST00000640464.1:n.2614A>T
ENST00000640729.1:n.772A>T
ENST00000405460.6:c.12195A>T	ENSP00000384582.2:p.Gly4065=
NM_032119.3:c.12195A>T	NP_115495.3:p.Gly4065=
NR_003149.1:n.12208A>T
XM_011543675.1:c.12192A>T	XP_011541977.1:p.Gly4064=
XM_011543676.1:c.12114A>T	XP_011541978.1:p.Gly4038=
XM_011543677.1:c.9498A>T	XP_011541979.1:p.Gly3166=
XM_011543678.1:c.12195A>T	XP_011541980.1:p.Gly4065=
NM_032119.4:c.12195A>T MANE Select	NP_115495.3:p.Gly4065=
XM_017009963.2:c.12216A>T	XP_016865452.1:p.Gly4072=
XM_017009964.2:c.12213A>T	XP_016865453.1:p.Gly4071=
XM_017009965.1:c.12213A>T	XP_016865454.1:p.Gly4071=
XM_017009966.2:c.12135A>T	XP_016865455.1:p.Gly4045=
XM_017009967.1:c.12120A>T	XP_016865456.1:p.Gly4040=
XM_017009968.2:c.12216A>T	XP_016865457.1:p.Gly4072=
XM_017009969.2:c.12216A>T	XP_016865458.1:p.Gly4072=
XM_017009970.2:c.12216A>T	XP_016865459.1:p.Gly4072=
XM_017009971.2:c.12216A>T	XP_016865460.1:p.Gly4072=
XM_017009972.1:c.5334A>T	XP_016865461.1:p.Gly1778=
XM_017009973.1:c.5313A>T	XP_016865462.1:p.Gly1771=
NR_003149.2:n.12211A>T