Canonical Allele Identifier: CA360367162

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050961G>C (hg19) ; chr5:g.90755144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755144G>C , CM000667.2:g.90755144G>C	GRCh38
NC_000005.9:g.90050961G>C , CM000667.1:g.90050961G>C	GRCh37
NC_000005.8:g.90086717G>C	NCBI36
NG_007083.1:g.201345G>C
NG_007083.2:g.230801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11539G>C MANE Select	ENSP00000384582.2:p.Glu3847Gln
ENST00000425867.3:c.670G>C	ENSP00000392618.3:p.Glu224Gln
ENST00000639431.1:c.265+78935G>C	ENSP00000491057.1:n.265+78935G>C
ENST00000640374.1:n.4683G>C
ENST00000640464.1:n.1958G>C
ENST00000405460.6:c.11539G>C	ENSP00000384582.2:p.Glu3847Gln
ENST00000509621.1:c.4236G>C
NM_032119.3:c.11539G>C	NP_115495.3:p.Glu3847Gln
NR_003149.1:n.11552G>C
XM_011543675.1:c.11536G>C	XP_011541977.1:p.Glu3846Gln
XM_011543676.1:c.11458G>C	XP_011541978.1:p.Glu3820Gln
XM_011543677.1:c.8842G>C	XP_011541979.1:p.Glu2948Gln
XM_011543678.1:c.11539G>C	XP_011541980.1:p.Glu3847Gln
NM_032119.4:c.11539G>C MANE Select	NP_115495.3:p.Glu3847Gln
XM_017009963.2:c.11560G>C	XP_016865452.1:p.Glu3854Gln
XM_017009964.2:c.11557G>C	XP_016865453.1:p.Glu3853Gln
XM_017009965.1:c.11557G>C	XP_016865454.1:p.Glu3853Gln
XM_017009966.2:c.11479G>C	XP_016865455.1:p.Glu3827Gln
XM_017009967.1:c.11464G>C	XP_016865456.1:p.Glu3822Gln
XM_017009968.2:c.11560G>C	XP_016865457.1:p.Glu3854Gln
XM_017009969.2:c.11560G>C	XP_016865458.1:p.Glu3854Gln
XM_017009970.2:c.11560G>C	XP_016865459.1:p.Glu3854Gln
XM_017009971.2:c.11560G>C	XP_016865460.1:p.Glu3854Gln
XM_017009972.1:c.4678G>C	XP_016865461.1:p.Glu1560Gln
XM_017009973.1:c.4657G>C	XP_016865462.1:p.Glu1553Gln
NR_003149.2:n.11555G>C