Canonical Allele Identifier: CA3340980

Gene: ADGRV1

Linked Data

• dbSNP Id: rs753255281
• ExAC: 5:90050873 A / T
• gnomAD v2: 5-90050873-A-T
• gnomAD v3: 5-90755056-A-T
• gnomAD v4: 5-90755056-A-T
• MyVariant Identifiers: chr5:g.90050873A>T (hg19) ; chr5:g.90755056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755056A>T , CM000667.2:g.90755056A>T	GRCh38
NC_000005.9:g.90050873A>T , CM000667.1:g.90050873A>T	GRCh37
NC_000005.8:g.90086629A>T	NCBI36
NG_007083.1:g.201257A>T
NG_007083.2:g.230713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11451A>T MANE Select	ENSP00000384582.2:p.Arg3817Ser
ENST00000425867.3:c.582A>T	ENSP00000392618.3:p.Arg194Ser
ENST00000639431.1:c.265+78847A>T	ENSP00000491057.1:n.265+78847A>T
ENST00000640374.1:n.4595A>T
ENST00000640464.1:n.1870A>T
ENST00000405460.6:c.11451A>T	ENSP00000384582.2:p.Arg3817Ser
ENST00000509621.1:c.4148A>T
NM_032119.3:c.11451A>T	NP_115495.3:p.Arg3817Ser
NR_003149.1:n.11464A>T
XM_011543675.1:c.11448A>T	XP_011541977.1:p.Arg3816Ser
XM_011543676.1:c.11370A>T	XP_011541978.1:p.Arg3790Ser
XM_011543677.1:c.8754A>T	XP_011541979.1:p.Arg2918Ser
XM_011543678.1:c.11451A>T	XP_011541980.1:p.Arg3817Ser
NM_032119.4:c.11451A>T MANE Select	NP_115495.3:p.Arg3817Ser
XM_017009963.2:c.11472A>T	XP_016865452.1:p.Arg3824Ser
XM_017009964.2:c.11469A>T	XP_016865453.1:p.Arg3823Ser
XM_017009965.1:c.11469A>T	XP_016865454.1:p.Arg3823Ser
XM_017009966.2:c.11391A>T	XP_016865455.1:p.Arg3797Ser
XM_017009967.1:c.11376A>T	XP_016865456.1:p.Arg3792Ser
XM_017009968.2:c.11472A>T	XP_016865457.1:p.Arg3824Ser
XM_017009969.2:c.11472A>T	XP_016865458.1:p.Arg3824Ser
XM_017009970.2:c.11472A>T	XP_016865459.1:p.Arg3824Ser
XM_017009971.2:c.11472A>T	XP_016865460.1:p.Arg3824Ser
XM_017009972.1:c.4590A>T	XP_016865461.1:p.Arg1530Ser
XM_017009973.1:c.4569A>T	XP_016865462.1:p.Arg1523Ser
NR_003149.2:n.11467A>T