Canonical Allele Identifier: CA3340989

Gene: ADGRV1

Linked Data

• dbSNP Id: rs760624323
• ExAC: 5:90050987 A / T
• gnomAD v4: 5-90755170-A-T
• MyVariant Identifiers: chr5:g.90050987A>T (hg19) ; chr5:g.90755170A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755170A>T , CM000667.2:g.90755170A>T	GRCh38
NC_000005.9:g.90050987A>T , CM000667.1:g.90050987A>T	GRCh37
NC_000005.8:g.90086743A>T	NCBI36
NG_007083.1:g.201371A>T
NG_007083.2:g.230827A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11565A>T MANE Select	ENSP00000384582.2:p.Glu3855Asp
ENST00000425867.3:c.696A>T	ENSP00000392618.3:p.Glu232Asp
ENST00000639431.1:c.265+78961A>T	ENSP00000491057.1:n.265+78961A>T
ENST00000640374.1:n.4709A>T
ENST00000640464.1:n.1984A>T
ENST00000405460.6:c.11565A>T	ENSP00000384582.2:p.Glu3855Asp
ENST00000509621.1:c.4262A>T
NM_032119.3:c.11565A>T	NP_115495.3:p.Glu3855Asp
NR_003149.1:n.11578A>T
XM_011543675.1:c.11562A>T	XP_011541977.1:p.Glu3854Asp
XM_011543676.1:c.11484A>T	XP_011541978.1:p.Glu3828Asp
XM_011543677.1:c.8868A>T	XP_011541979.1:p.Glu2956Asp
XM_011543678.1:c.11565A>T	XP_011541980.1:p.Glu3855Asp
NM_032119.4:c.11565A>T MANE Select	NP_115495.3:p.Glu3855Asp
XM_017009963.2:c.11586A>T	XP_016865452.1:p.Glu3862Asp
XM_017009964.2:c.11583A>T	XP_016865453.1:p.Glu3861Asp
XM_017009965.1:c.11583A>T	XP_016865454.1:p.Glu3861Asp
XM_017009966.2:c.11505A>T	XP_016865455.1:p.Glu3835Asp
XM_017009967.1:c.11490A>T	XP_016865456.1:p.Glu3830Asp
XM_017009968.2:c.11586A>T	XP_016865457.1:p.Glu3862Asp
XM_017009969.2:c.11586A>T	XP_016865458.1:p.Glu3862Asp
XM_017009970.2:c.11586A>T	XP_016865459.1:p.Glu3862Asp
XM_017009971.2:c.11586A>T	XP_016865460.1:p.Glu3862Asp
XM_017009972.1:c.4704A>T	XP_016865461.1:p.Glu1568Asp
XM_017009973.1:c.4683A>T	XP_016865462.1:p.Glu1561Asp
NR_003149.2:n.11581A>T