Canonical Allele Identifier: CA360396289

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90008182G>C (hg19) ; chr5:g.90712365G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712365G>C , CM000667.2:g.90712365G>C	GRCh38
NC_000005.9:g.90008182G>C , CM000667.1:g.90008182G>C	GRCh37
NC_000005.8:g.90043938G>C	NCBI36
NG_007083.1:g.158566G>C
NG_007083.2:g.188022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9121G>C MANE Select	ENSP00000384582.2:p.Glu3041Gln
ENST00000639431.1:c.265+36156G>C	ENSP00000491057.1:n.265+36156G>C
ENST00000639473.1:n.4580G>C
ENST00000640012.1:c.2928G>C
ENST00000640374.1:n.2265G>C
ENST00000640779.1:c.3850G>C
ENST00000405460.6:c.9121G>C	ENSP00000384582.2:p.Glu3041Gln
ENST00000509621.1:c.1818G>C
NM_032119.3:c.9121G>C	NP_115495.3:p.Glu3041Gln
NR_003149.1:n.9134G>C
XM_011543675.1:c.9118G>C	XP_011541977.1:p.Glu3040Gln
XM_011543676.1:c.9040G>C	XP_011541978.1:p.Glu3014Gln
XM_011543677.1:c.6424G>C	XP_011541979.1:p.Glu2142Gln
XM_011543678.1:c.9121G>C	XP_011541980.1:p.Glu3041Gln
XM_011543679.1:c.9121G>C	XP_011541981.1:p.Glu3041Gln
NM_032119.4:c.9121G>C MANE Select	NP_115495.3:p.Glu3041Gln
XM_017009963.2:c.9142G>C	XP_016865452.1:p.Glu3048Gln
XM_017009964.2:c.9139G>C	XP_016865453.1:p.Glu3047Gln
XM_017009965.1:c.9139G>C	XP_016865454.1:p.Glu3047Gln
XM_017009966.2:c.9061G>C	XP_016865455.1:p.Glu3021Gln
XM_017009967.1:c.9046G>C	XP_016865456.1:p.Glu3016Gln
XM_017009968.2:c.9142G>C	XP_016865457.1:p.Glu3048Gln
XM_017009969.2:c.9142G>C	XP_016865458.1:p.Glu3048Gln
XM_017009970.2:c.9142G>C	XP_016865459.1:p.Glu3048Gln
XM_017009971.2:c.9142G>C	XP_016865460.1:p.Glu3048Gln
XM_017009972.1:c.2260G>C	XP_016865461.1:p.Glu754Gln
XM_017009973.1:c.2239G>C	XP_016865462.1:p.Glu747Gln
XM_017009974.2:c.9142G>C	XP_016865463.1:p.Glu3048Gln
NR_003149.2:n.9137G>C