Canonical Allele Identifier: CA3340187

Gene: ADGRV1

Linked Data

• dbSNP Id: rs371019516
• ExAC: 5:89999498 C / A
• gnomAD v2: 5-89999498-C-A
• gnomAD v4: 5-90703681-C-A
• MyVariant Identifiers: chr5:g.89999498C>A (hg19) ; chr5:g.90703681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703681C>A , CM000667.2:g.90703681C>A	GRCh38
NC_000005.9:g.89999498C>A , CM000667.1:g.89999498C>A	GRCh37
NC_000005.8:g.90035254C>A	NCBI36
NG_007083.1:g.149882C>A
NG_007083.2:g.179338C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8172C>A MANE Select	ENSP00000384582.2:p.Phe2724Leu
ENST00000639431.1:c.265+27472C>A	ENSP00000491057.1:n.265+27472C>A
ENST00000639473.1:n.3631C>A
ENST00000640012.1:c.1979C>A
ENST00000640374.1:n.1316C>A
ENST00000640403.1:c.5463C>A	ENSP00000492531.1:p.Phe1821Leu
ENST00000640779.1:c.2901C>A
ENST00000405460.6:c.8172C>A	ENSP00000384582.2:p.Phe2724Leu
ENST00000509621.1:c.869C>A
NM_032119.3:c.8172C>A	NP_115495.3:p.Phe2724Leu
NR_003149.1:n.8185C>A
XM_011543675.1:c.8169C>A	XP_011541977.1:p.Phe2723Leu
XM_011543676.1:c.8091C>A	XP_011541978.1:p.Phe2697Leu
XM_011543677.1:c.5475C>A	XP_011541979.1:p.Phe1825Leu
XM_011543678.1:c.8172C>A	XP_011541980.1:p.Phe2724Leu
XM_011543679.1:c.8172C>A	XP_011541981.1:p.Phe2724Leu
NM_032119.4:c.8172C>A MANE Select	NP_115495.3:p.Phe2724Leu
XM_017009963.2:c.8172C>A	XP_016865452.1:p.Phe2724Leu
XM_017009964.2:c.8169C>A	XP_016865453.1:p.Phe2723Leu
XM_017009965.1:c.8169C>A	XP_016865454.1:p.Phe2723Leu
XM_017009966.2:c.8091C>A	XP_016865455.1:p.Phe2697Leu
XM_017009967.1:c.8076C>A	XP_016865456.1:p.Phe2692Leu
XM_017009968.2:c.8172C>A	XP_016865457.1:p.Phe2724Leu
XM_017009969.2:c.8172C>A	XP_016865458.1:p.Phe2724Leu
XM_017009970.2:c.8172C>A	XP_016865459.1:p.Phe2724Leu
XM_017009971.2:c.8172C>A	XP_016865460.1:p.Phe2724Leu
XM_017009972.1:c.1290C>A	XP_016865461.1:p.Phe430Leu
XM_017009973.1:c.1290C>A	XP_016865462.1:p.Phe430Leu
XM_017009974.2:c.8172C>A	XP_016865463.1:p.Phe2724Leu
NR_003149.2:n.8188C>A