Canonical Allele Identifier: CA3340921

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90753658A>C , CM000667.2:g.90753658A>C	GRCh38
NC_000005.9:g.90049475A>C , CM000667.1:g.90049475A>C	GRCh37
NC_000005.8:g.90085231A>C	NCBI36
NG_007083.1:g.199859A>C
NG_007083.2:g.229315A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.11206A>C MANE Select	NP_115495.3:p.Ile3736Leu
ENST00000405460.9:c.11206A>C MANE Select	ENSP00000384582.2:p.Ile3736Leu
NM_032119.3:c.11206A>C	NP_115495.3:p.Ile3736Leu
NR_003149.1:n.11219A>C
NR_003149.2:n.11222A>C
ENST00000405460.6:c.11206A>C	ENSP00000384582.2:p.Ile3736Leu
ENST00000425867.3:c.337A>C	ENSP00000392618.3:p.Ile113Leu
ENST00000509621.1:c.3903A>C
ENST00000639431.1:c.265+77449A>C	ENSP00000491057.1:n.265+77449A>C
ENST00000640374.1:n.4350A>C
ENST00000640464.1:n.1625A>C
XM_011543675.1:c.11203A>C	XP_011541977.1:p.Ile3735Leu
XM_011543676.1:c.11125A>C	XP_011541978.1:p.Ile3709Leu
XM_011543677.1:c.8509A>C	XP_011541979.1:p.Ile2837Leu
XM_011543678.1:c.11206A>C	XP_011541980.1:p.Ile3736Leu
XM_017009963.2:c.11227A>C	XP_016865452.1:p.Ile3743Leu
XM_017009964.2:c.11224A>C	XP_016865453.1:p.Ile3742Leu
XM_017009965.1:c.11224A>C	XP_016865454.1:p.Ile3742Leu
XM_017009966.2:c.11146A>C	XP_016865455.1:p.Ile3716Leu
XM_017009967.1:c.11131A>C	XP_016865456.1:p.Ile3711Leu
XM_017009968.2:c.11227A>C	XP_016865457.1:p.Ile3743Leu
XM_017009969.2:c.11227A>C	XP_016865458.1:p.Ile3743Leu
XM_017009970.2:c.11227A>C	XP_016865459.1:p.Ile3743Leu
XM_017009971.2:c.11227A>C	XP_016865460.1:p.Ile3743Leu
XM_017009972.1:c.4345A>C	XP_016865461.1:p.Ile1449Leu
XM_017009973.1:c.4324A>C	XP_016865462.1:p.Ile1442Leu