Canonical Allele Identifier: CA360366849

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755091-A-C
• MyVariant Identifiers: chr5:g.90050908A>C (hg19) ; chr5:g.90755091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755091A>C , CM000667.2:g.90755091A>C	GRCh38
NC_000005.9:g.90050908A>C , CM000667.1:g.90050908A>C	GRCh37
NC_000005.8:g.90086664A>C	NCBI36
NG_007083.1:g.201292A>C
NG_007083.2:g.230748A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11486A>C MANE Select	ENSP00000384582.2:p.Gln3829Pro
ENST00000425867.3:c.617A>C	ENSP00000392618.3:p.Gln206Pro
ENST00000639431.1:c.265+78882A>C	ENSP00000491057.1:n.265+78882A>C
ENST00000640374.1:n.4630A>C
ENST00000640464.1:n.1905A>C
ENST00000405460.6:c.11486A>C	ENSP00000384582.2:p.Gln3829Pro
ENST00000509621.1:c.4183A>C
NM_032119.3:c.11486A>C	NP_115495.3:p.Gln3829Pro
NR_003149.1:n.11499A>C
XM_011543675.1:c.11483A>C	XP_011541977.1:p.Gln3828Pro
XM_011543676.1:c.11405A>C	XP_011541978.1:p.Gln3802Pro
XM_011543677.1:c.8789A>C	XP_011541979.1:p.Gln2930Pro
XM_011543678.1:c.11486A>C	XP_011541980.1:p.Gln3829Pro
NM_032119.4:c.11486A>C MANE Select	NP_115495.3:p.Gln3829Pro
XM_017009963.2:c.11507A>C	XP_016865452.1:p.Gln3836Pro
XM_017009964.2:c.11504A>C	XP_016865453.1:p.Gln3835Pro
XM_017009965.1:c.11504A>C	XP_016865454.1:p.Gln3835Pro
XM_017009966.2:c.11426A>C	XP_016865455.1:p.Gln3809Pro
XM_017009967.1:c.11411A>C	XP_016865456.1:p.Gln3804Pro
XM_017009968.2:c.11507A>C	XP_016865457.1:p.Gln3836Pro
XM_017009969.2:c.11507A>C	XP_016865458.1:p.Gln3836Pro
XM_017009970.2:c.11507A>C	XP_016865459.1:p.Gln3836Pro
XM_017009971.2:c.11507A>C	XP_016865460.1:p.Gln3836Pro
XM_017009972.1:c.4625A>C	XP_016865461.1:p.Gln1542Pro
XM_017009973.1:c.4604A>C	XP_016865462.1:p.Gln1535Pro
NR_003149.2:n.11502A>C