Canonical Allele Identifier: CA360398931

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90789789-G-C
• MyVariant Identifiers: chr5:g.90085606G>C (hg19) ; chr5:g.90789789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789789G>C , CM000667.2:g.90789789G>C	GRCh38
NC_000005.9:g.90085606G>C , CM000667.1:g.90085606G>C	GRCh37
NC_000005.8:g.90121362G>C	NCBI36
NG_007083.1:g.235990G>C
NG_007083.2:g.265446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13981G>C MANE Select	ENSP00000384582.2:p.Glu4661Gln
ENST00000425867.3:c.2935G>C	ENSP00000392618.3:p.Glu979Gln
ENST00000638510.1:n.1248G>C
ENST00000638975.1:c.610G>C	ENSP00000492630.1:p.Glu204Gln
ENST00000639431.1:c.265+113580G>C	ENSP00000491057.1:n.265+113580G>C
ENST00000640407.1:c.391G>C	ENSP00000491425.1:p.Glu131Gln
ENST00000405460.6:c.13981G>C	ENSP00000384582.2:p.Glu4661Gln
ENST00000425867.2:c.964G>C	ENSP00000392618.2:p.Glu322Gln
NM_032119.3:c.13981G>C	NP_115495.3:p.Glu4661Gln
NR_003149.1:n.13994G>C
XM_011543675.1:c.13978G>C	XP_011541977.1:p.Glu4660Gln
XM_011543676.1:c.13900G>C	XP_011541978.1:p.Glu4634Gln
XM_011543677.1:c.11284G>C	XP_011541979.1:p.Glu3762Gln
XM_011543678.1:c.13981G>C	XP_011541980.1:p.Glu4661Gln
NM_032119.4:c.13981G>C MANE Select	NP_115495.3:p.Glu4661Gln
XM_017009963.2:c.14002G>C	XP_016865452.1:p.Glu4668Gln
XM_017009964.2:c.13999G>C	XP_016865453.1:p.Glu4667Gln
XM_017009965.1:c.13999G>C	XP_016865454.1:p.Glu4667Gln
XM_017009966.2:c.13921G>C	XP_016865455.1:p.Glu4641Gln
XM_017009967.1:c.13906G>C	XP_016865456.1:p.Glu4636Gln
XM_017009968.2:c.14002G>C	XP_016865457.1:p.Glu4668Gln
XM_017009969.2:c.14002G>C	XP_016865458.1:p.Glu4668Gln
XM_017009970.2:c.14002G>C	XP_016865459.1:p.Glu4668Gln
XM_017009971.2:c.14002G>C	XP_016865460.1:p.Glu4668Gln
XM_017009972.1:c.7120G>C	XP_016865461.1:p.Glu2374Gln
XM_017009973.1:c.7099G>C	XP_016865462.1:p.Glu2367Gln
NR_003149.2:n.13997G>C