Canonical Allele Identifier: CA3340572

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720990C>T , CM000667.2:g.90720990C>T	GRCh38
NC_000005.9:g.90016807C>T , CM000667.1:g.90016807C>T	GRCh37
NC_000005.8:g.90052563C>T	NCBI36
NG_007083.1:g.167191C>T
NG_007083.2:g.196647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9679C>T MANE Select	NP_115495.3:p.Arg3227Ter
ENST00000405460.9:c.9679C>T MANE Select	ENSP00000384582.2:p.Arg3227Ter
NM_032119.3:c.9679C>T	NP_115495.3:p.Arg3227Ter
NR_003149.1:n.9692C>T
NR_003149.2:n.9695C>T
ENST00000405460.6:c.9679C>T	ENSP00000384582.2:p.Arg3227Ter
ENST00000509621.1:c.2376C>T
ENST00000639431.1:c.265+44781C>T	ENSP00000491057.1:n.265+44781C>T
ENST00000640374.1:n.2823C>T
ENST00000640464.1:n.98C>T
ENST00000640779.1:c.4408C>T
XM_011543675.1:c.9676C>T	XP_011541977.1:p.Arg3226Ter
XM_011543676.1:c.9598C>T	XP_011541978.1:p.Arg3200Ter
XM_011543677.1:c.6982C>T	XP_011541979.1:p.Arg2328Ter
XM_011543678.1:c.9679C>T	XP_011541980.1:p.Arg3227Ter
XM_011543679.1:c.9679C>T	XP_011541981.1:p.Arg3227Ter
XM_017009963.2:c.9700C>T	XP_016865452.1:p.Arg3234Ter
XM_017009964.2:c.9697C>T	XP_016865453.1:p.Arg3233Ter
XM_017009965.1:c.9697C>T	XP_016865454.1:p.Arg3233Ter
XM_017009966.2:c.9619C>T	XP_016865455.1:p.Arg3207Ter
XM_017009967.1:c.9604C>T	XP_016865456.1:p.Arg3202Ter
XM_017009968.2:c.9700C>T	XP_016865457.1:p.Arg3234Ter
XM_017009969.2:c.9700C>T	XP_016865458.1:p.Arg3234Ter
XM_017009970.2:c.9700C>T	XP_016865459.1:p.Arg3234Ter
XM_017009971.2:c.9700C>T	XP_016865460.1:p.Arg3234Ter
XM_017009972.1:c.2818C>T	XP_016865461.1:p.Arg940Ter
XM_017009973.1:c.2797C>T	XP_016865462.1:p.Arg933Ter
XM_017009974.2:c.9700C>T	XP_016865463.1:p.Arg3234Ter
XR_001742802.1:n.2523-5181G>A
XR_948560.1:n.272-5181G>A