Canonical Allele Identifier: CA360387742

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90778451G>T , CM000667.2:g.90778451G>T	GRCh38
NC_000005.9:g.90074268G>T , CM000667.1:g.90074268G>T	GRCh37
NC_000005.8:g.90110024G>T	NCBI36
NG_007083.1:g.224652G>T
NG_007083.2:g.254108G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12691G>T MANE Select	NP_115495.3:p.Glu4231Ter
ENST00000405460.9:c.12691G>T MANE Select	ENSP00000384582.2:p.Glu4231Ter
NM_032119.3:c.12691G>T	NP_115495.3:p.Glu4231Ter
NR_003149.1:n.12704G>T
NR_003149.2:n.12707G>T
ENST00000405460.6:c.12691G>T	ENSP00000384582.2:p.Glu4231Ter
ENST00000425867.3:c.1645G>T	ENSP00000392618.3:p.Glu549Ter
ENST00000639431.1:c.265+102242G>T	ENSP00000491057.1:n.265+102242G>T
ENST00000640464.1:n.3110G>T
ENST00000640729.1:n.1268G>T
XM_011543675.1:c.12688G>T	XP_011541977.1:p.Glu4230Ter
XM_011543676.1:c.12610G>T	XP_011541978.1:p.Glu4204Ter
XM_011543677.1:c.9994G>T	XP_011541979.1:p.Glu3332Ter
XM_011543678.1:c.12691G>T	XP_011541980.1:p.Glu4231Ter
XM_017009963.2:c.12712G>T	XP_016865452.1:p.Glu4238Ter
XM_017009964.2:c.12709G>T	XP_016865453.1:p.Glu4237Ter
XM_017009965.1:c.12709G>T	XP_016865454.1:p.Glu4237Ter
XM_017009966.2:c.12631G>T	XP_016865455.1:p.Glu4211Ter
XM_017009967.1:c.12616G>T	XP_016865456.1:p.Glu4206Ter
XM_017009968.2:c.12712G>T	XP_016865457.1:p.Glu4238Ter
XM_017009969.2:c.12712G>T	XP_016865458.1:p.Glu4238Ter
XM_017009970.2:c.12712G>T	XP_016865459.1:p.Glu4238Ter
XM_017009971.2:c.12712G>T	XP_016865460.1:p.Glu4238Ter
XM_017009972.1:c.5830G>T	XP_016865461.1:p.Glu1944Ter
XM_017009973.1:c.5809G>T	XP_016865462.1:p.Glu1937Ter