Canonical Allele Identifier: CA360366641

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755060-C-G
• MyVariant Identifiers: chr5:g.90050877C>G (hg19) ; chr5:g.90755060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755060C>G , CM000667.2:g.90755060C>G	GRCh38
NC_000005.9:g.90050877C>G , CM000667.1:g.90050877C>G	GRCh37
NC_000005.8:g.90086633C>G	NCBI36
NG_007083.1:g.201261C>G
NG_007083.2:g.230717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11455C>G MANE Select	ENSP00000384582.2:p.Gln3819Glu
ENST00000425867.3:c.586C>G	ENSP00000392618.3:p.Gln196Glu
ENST00000639431.1:c.265+78851C>G	ENSP00000491057.1:n.265+78851C>G
ENST00000640374.1:n.4599C>G
ENST00000640464.1:n.1874C>G
ENST00000405460.6:c.11455C>G	ENSP00000384582.2:p.Gln3819Glu
ENST00000509621.1:c.4152C>G
NM_032119.3:c.11455C>G	NP_115495.3:p.Gln3819Glu
NR_003149.1:n.11468C>G
XM_011543675.1:c.11452C>G	XP_011541977.1:p.Gln3818Glu
XM_011543676.1:c.11374C>G	XP_011541978.1:p.Gln3792Glu
XM_011543677.1:c.8758C>G	XP_011541979.1:p.Gln2920Glu
XM_011543678.1:c.11455C>G	XP_011541980.1:p.Gln3819Glu
NM_032119.4:c.11455C>G MANE Select	NP_115495.3:p.Gln3819Glu
XM_017009963.2:c.11476C>G	XP_016865452.1:p.Gln3826Glu
XM_017009964.2:c.11473C>G	XP_016865453.1:p.Gln3825Glu
XM_017009965.1:c.11473C>G	XP_016865454.1:p.Gln3825Glu
XM_017009966.2:c.11395C>G	XP_016865455.1:p.Gln3799Glu
XM_017009967.1:c.11380C>G	XP_016865456.1:p.Gln3794Glu
XM_017009968.2:c.11476C>G	XP_016865457.1:p.Gln3826Glu
XM_017009969.2:c.11476C>G	XP_016865458.1:p.Gln3826Glu
XM_017009970.2:c.11476C>G	XP_016865459.1:p.Gln3826Glu
XM_017009971.2:c.11476C>G	XP_016865460.1:p.Gln3826Glu
XM_017009972.1:c.4594C>G	XP_016865461.1:p.Gln1532Glu
XM_017009973.1:c.4573C>G	XP_016865462.1:p.Gln1525Glu
NR_003149.2:n.11471C>G