Canonical Allele Identifier: CA138159

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46344
• ClinVar RCV Id: RCV000039600 ; RCV001151461 ; RCV001515554
• dbSNP Id: rs41303352
• ExAC: 5:89979691 A / G
• gnomAD v2: 5-89979691-A-G
• gnomAD v3: 5-90683874-A-G
• gnomAD v4: 5-90683874-A-G
• MyVariant Identifiers: chr5:g.89979691A>G (hg19) ; chr5:g.90683874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683874A>G , CM000667.2:g.90683874A>G	GRCh38
NC_000005.9:g.89979691A>G , CM000667.1:g.89979691A>G	GRCh37
NC_000005.8:g.90015447A>G	NCBI36
NG_007083.1:g.130075A>G
NG_007083.2:g.159531A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.5953A>G MANE Select	ENSP00000384582.2:p.Asn1985Asp
ENST00000639431.1:c.265+7665A>G	ENSP00000491057.1:n.265+7665A>G
ENST00000639473.1:n.1412A>G
ENST00000640012.1:c.165-1906A>G
ENST00000640403.1:c.3244A>G	ENSP00000492531.1:p.Asn1082Asp
ENST00000640779.1:c.765A>G
ENST00000405460.6:c.5953A>G	ENSP00000384582.2:p.Asn1985Asp
NM_032119.3:c.5953A>G	NP_115495.3:p.Asn1985Asp
NR_003149.1:n.6049A>G
XM_011543675.1:c.5950A>G	XP_011541977.1:p.Asn1984Asp
XM_011543676.1:c.5872A>G	XP_011541978.1:p.Asn1958Asp
XM_011543677.1:c.3256A>G	XP_011541979.1:p.Asn1086Asp
XM_011543678.1:c.5953A>G	XP_011541980.1:p.Asn1985Asp
XM_011543679.1:c.5953A>G	XP_011541981.1:p.Asn1985Asp
NM_032119.4:c.5953A>G MANE Select	NP_115495.3:p.Asn1985Asp
XM_017009963.2:c.5953A>G	XP_016865452.1:p.Asn1985Asp
XM_017009964.2:c.5950A>G	XP_016865453.1:p.Asn1984Asp
XM_017009965.1:c.5950A>G	XP_016865454.1:p.Asn1984Asp
XM_017009966.2:c.5872A>G	XP_016865455.1:p.Asn1958Asp
XM_017009967.1:c.5857A>G	XP_016865456.1:p.Asn1953Asp
XM_017009968.2:c.5953A>G	XP_016865457.1:p.Asn1985Asp
XM_017009969.2:c.5953A>G	XP_016865458.1:p.Asn1985Asp
XM_017009970.2:c.5953A>G	XP_016865459.1:p.Asn1985Asp
XM_017009971.2:c.5953A>G	XP_016865460.1:p.Asn1985Asp
XM_017009973.1:c.-847A>G	XP_016865462.1:n.-847A>G
XM_017009974.2:c.5953A>G	XP_016865463.1:p.Asn1985Asp
NR_003149.2:n.6052A>G