Canonical Allele Identifier: CA360365453

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89923043G>C (hg19) ; chr5:g.90627226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627226G>C , CM000667.2:g.90627226G>C	GRCh38
NC_000005.9:g.89923043G>C , CM000667.1:g.89923043G>C	GRCh37
NC_000005.8:g.89958799G>C	NCBI36
NG_007083.1:g.73427G>C
NG_007083.2:g.102883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.688G>C MANE Select	ENSP00000384582.2:p.Glu230Gln
ENST00000640083.1:n.393G>C
ENST00000640109.1:n.784G>C
ENST00000640281.1:n.747G>C
ENST00000405460.6:c.688G>C	ENSP00000384582.2:p.Glu230Gln
NM_032119.3:c.688G>C	NP_115495.3:p.Glu230Gln
NR_003149.1:n.784G>C
XM_011543675.1:c.688G>C	XP_011541977.1:p.Glu230Gln
XM_011543676.1:c.688G>C	XP_011541978.1:p.Glu230Gln
XM_011543678.1:c.688G>C	XP_011541980.1:p.Glu230Gln
XM_011543679.1:c.688G>C	XP_011541981.1:p.Glu230Gln
NM_032119.4:c.688G>C MANE Select	NP_115495.3:p.Glu230Gln
XM_017009963.2:c.688G>C	XP_016865452.1:p.Glu230Gln
XM_017009964.2:c.688G>C	XP_016865453.1:p.Glu230Gln
XM_017009965.1:c.685G>C	XP_016865454.1:p.Glu229Gln
XM_017009966.2:c.688G>C	XP_016865455.1:p.Glu230Gln
XM_017009967.1:c.592G>C	XP_016865456.1:p.Glu198Gln
XM_017009968.2:c.688G>C	XP_016865457.1:p.Glu230Gln
XM_017009969.2:c.688G>C	XP_016865458.1:p.Glu230Gln
XM_017009970.2:c.688G>C	XP_016865459.1:p.Glu230Gln
XM_017009971.2:c.688G>C	XP_016865460.1:p.Glu230Gln
XM_017009974.2:c.688G>C	XP_016865463.1:p.Glu230Gln
NR_003149.2:n.787G>C