Canonical Allele Identifier: CA360409857

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 523543
• ClinVar RCV Id: RCV000626976
• dbSNP Id: rs1554079046
• MyVariant Identifiers: chr5:g.89971137A>T (hg19) ; chr5:g.90675320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90675320A>T , CM000667.2:g.90675320A>T	GRCh38
NC_000005.9:g.89971137A>T , CM000667.1:g.89971137A>T	GRCh37
NC_000005.8:g.90006893A>T	NCBI36
NG_007083.1:g.121521A>T
NG_007083.2:g.150977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5188A>T MANE Select	ENSP00000384582.2:p.Ile1730Phe
ENST00000639431.1:c.10A>T	ENSP00000491057.1:p.Ile4Phe
ENST00000639473.1:n.647A>T
ENST00000640403.1:c.2479A>T	ENSP00000492531.1:p.Ile827Phe
ENST00000640779.1:c.3A>T
ENST00000405460.6:c.5188A>T	ENSP00000384582.2:p.Ile1730Phe
ENST00000450321.2:n.523A>T
NM_032119.3:c.5188A>T	NP_115495.3:p.Ile1730Phe
NR_003149.1:n.5284A>T
XM_011543675.1:c.5188A>T	XP_011541977.1:p.Ile1730Phe
XM_011543676.1:c.5188A>T	XP_011541978.1:p.Ile1730Phe
XM_011543677.1:c.2491A>T	XP_011541979.1:p.Ile831Phe
XM_011543678.1:c.5188A>T	XP_011541980.1:p.Ile1730Phe
XM_011543679.1:c.5188A>T	XP_011541981.1:p.Ile1730Phe
NM_032119.4:c.5188A>T MANE Select	NP_115495.3:p.Ile1730Phe
XM_017009963.2:c.5188A>T	XP_016865452.1:p.Ile1730Phe
XM_017009964.2:c.5188A>T	XP_016865453.1:p.Ile1730Phe
XM_017009965.1:c.5185A>T	XP_016865454.1:p.Ile1729Phe
XM_017009966.2:c.5188A>T	XP_016865455.1:p.Ile1730Phe
XM_017009967.1:c.5092A>T	XP_016865456.1:p.Ile1698Phe
XM_017009968.2:c.5188A>T	XP_016865457.1:p.Ile1730Phe
XM_017009969.2:c.5188A>T	XP_016865458.1:p.Ile1730Phe
XM_017009970.2:c.5188A>T	XP_016865459.1:p.Ile1730Phe
XM_017009971.2:c.5188A>T	XP_016865460.1:p.Ile1730Phe
XM_017009973.1:c.-1609A>T	XP_016865462.1:n.-1609A>T
XM_017009974.2:c.5188A>T	XP_016865463.1:p.Ile1730Phe
NR_003149.2:n.5287A>T