Canonical Allele Identifier: CA360394469

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90783321G>T , CM000667.2:g.90783321G>T	GRCh38
NC_000005.9:g.90079138G>T , CM000667.1:g.90079138G>T	GRCh37
NC_000005.8:g.90114894G>T	NCBI36
NG_007083.1:g.229522G>T
NG_007083.2:g.258978G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.13429G>T MANE Select	NP_115495.3:p.Glu4477Ter
ENST00000405460.9:c.13429G>T MANE Select	ENSP00000384582.2:p.Glu4477Ter
NM_032119.3:c.13429G>T	NP_115495.3:p.Glu4477Ter
NR_003149.1:n.13442G>T
NR_003149.2:n.13445G>T
ENST00000405460.6:c.13429G>T	ENSP00000384582.2:p.Glu4477Ter
ENST00000425867.2:c.412G>T	ENSP00000392618.2:p.Glu138Ter
ENST00000425867.3:c.2383G>T	ENSP00000392618.3:p.Glu795Ter
ENST00000638510.1:n.696G>T
ENST00000638975.1:c.58G>T	ENSP00000492630.1:p.Glu20Ter
ENST00000639431.1:c.265+107112G>T	ENSP00000491057.1:n.265+107112G>T
XM_011543675.1:c.13426G>T	XP_011541977.1:p.Glu4476Ter
XM_011543676.1:c.13348G>T	XP_011541978.1:p.Glu4450Ter
XM_011543677.1:c.10732G>T	XP_011541979.1:p.Glu3578Ter
XM_011543678.1:c.13429G>T	XP_011541980.1:p.Glu4477Ter
XM_017009963.2:c.13450G>T	XP_016865452.1:p.Glu4484Ter
XM_017009964.2:c.13447G>T	XP_016865453.1:p.Glu4483Ter
XM_017009965.1:c.13447G>T	XP_016865454.1:p.Glu4483Ter
XM_017009966.2:c.13369G>T	XP_016865455.1:p.Glu4457Ter
XM_017009967.1:c.13354G>T	XP_016865456.1:p.Glu4452Ter
XM_017009968.2:c.13450G>T	XP_016865457.1:p.Glu4484Ter
XM_017009969.2:c.13450G>T	XP_016865458.1:p.Glu4484Ter
XM_017009970.2:c.13450G>T	XP_016865459.1:p.Glu4484Ter
XM_017009971.2:c.13450G>T	XP_016865460.1:p.Glu4484Ter
XM_017009972.1:c.6568G>T	XP_016865461.1:p.Glu2190Ter
XM_017009973.1:c.6547G>T	XP_016865462.1:p.Glu2183Ter