Canonical Allele Identifier: CA3339671

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 287576
• ClinVar RCV Id: RCV000382480 ; RCV001374879
• dbSNP Id: rs41302834
• ExAC: 5:89979568 G / T
• gnomAD v2: 5-89979568-G-T
• gnomAD v3: 5-90683751-G-T
• gnomAD v4: 5-90683751-G-T
• MyVariant Identifiers: chr5:g.89979568G>T (hg19) ; chr5:g.90683751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683751G>T , CM000667.2:g.90683751G>T	GRCh38
NC_000005.9:g.89979568G>T , CM000667.1:g.89979568G>T	GRCh37
NC_000005.8:g.90015324G>T	NCBI36
NG_007083.1:g.129952G>T
NG_007083.2:g.159408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5830G>T MANE Select	ENSP00000384582.2:p.Asp1944Tyr
ENST00000639431.1:c.265+7542G>T	ENSP00000491057.1:n.265+7542G>T
ENST00000639473.1:n.1289G>T
ENST00000640012.1:c.165-2029G>T
ENST00000640403.1:c.3121G>T	ENSP00000492531.1:p.Asp1041Tyr
ENST00000640779.1:c.642G>T
ENST00000405460.6:c.5830G>T	ENSP00000384582.2:p.Asp1944Tyr
NM_032119.3:c.5830G>T	NP_115495.3:p.Asp1944Tyr
NR_003149.1:n.5926G>T
XM_011543675.1:c.5827G>T	XP_011541977.1:p.Asp1943Tyr
XM_011543676.1:c.5749G>T	XP_011541978.1:p.Asp1917Tyr
XM_011543677.1:c.3133G>T	XP_011541979.1:p.Asp1045Tyr
XM_011543678.1:c.5830G>T	XP_011541980.1:p.Asp1944Tyr
XM_011543679.1:c.5830G>T	XP_011541981.1:p.Asp1944Tyr
NM_032119.4:c.5830G>T MANE Select	NP_115495.3:p.Asp1944Tyr
XM_017009963.2:c.5830G>T	XP_016865452.1:p.Asp1944Tyr
XM_017009964.2:c.5827G>T	XP_016865453.1:p.Asp1943Tyr
XM_017009965.1:c.5827G>T	XP_016865454.1:p.Asp1943Tyr
XM_017009966.2:c.5749G>T	XP_016865455.1:p.Asp1917Tyr
XM_017009967.1:c.5734G>T	XP_016865456.1:p.Asp1912Tyr
XM_017009968.2:c.5830G>T	XP_016865457.1:p.Asp1944Tyr
XM_017009969.2:c.5830G>T	XP_016865458.1:p.Asp1944Tyr
XM_017009970.2:c.5830G>T	XP_016865459.1:p.Asp1944Tyr
XM_017009971.2:c.5830G>T	XP_016865460.1:p.Asp1944Tyr
XM_017009973.1:c.-970G>T	XP_016865462.1:n.-970G>T
XM_017009974.2:c.5830G>T	XP_016865463.1:p.Asp1944Tyr
NR_003149.2:n.5929G>T