Canonical Allele Identifier: CA360367252

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755156-G-T
• MyVariant Identifiers: chr5:g.90050973G>T (hg19) ; chr5:g.90755156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755156G>T , CM000667.2:g.90755156G>T	GRCh38
NC_000005.9:g.90050973G>T , CM000667.1:g.90050973G>T	GRCh37
NC_000005.8:g.90086729G>T	NCBI36
NG_007083.1:g.201357G>T
NG_007083.2:g.230813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11551G>T MANE Select	ENSP00000384582.2:p.Glu3851Ter
ENST00000425867.3:c.682G>T	ENSP00000392618.3:p.Glu228Ter
ENST00000639431.1:c.265+78947G>T	ENSP00000491057.1:n.265+78947G>T
ENST00000640374.1:n.4695G>T
ENST00000640464.1:n.1970G>T
ENST00000405460.6:c.11551G>T	ENSP00000384582.2:p.Glu3851Ter
ENST00000509621.1:c.4248G>T
NM_032119.3:c.11551G>T	NP_115495.3:p.Glu3851Ter
NR_003149.1:n.11564G>T
XM_011543675.1:c.11548G>T	XP_011541977.1:p.Glu3850Ter
XM_011543676.1:c.11470G>T	XP_011541978.1:p.Glu3824Ter
XM_011543677.1:c.8854G>T	XP_011541979.1:p.Glu2952Ter
XM_011543678.1:c.11551G>T	XP_011541980.1:p.Glu3851Ter
NM_032119.4:c.11551G>T MANE Select	NP_115495.3:p.Glu3851Ter
XM_017009963.2:c.11572G>T	XP_016865452.1:p.Glu3858Ter
XM_017009964.2:c.11569G>T	XP_016865453.1:p.Glu3857Ter
XM_017009965.1:c.11569G>T	XP_016865454.1:p.Glu3857Ter
XM_017009966.2:c.11491G>T	XP_016865455.1:p.Glu3831Ter
XM_017009967.1:c.11476G>T	XP_016865456.1:p.Glu3826Ter
XM_017009968.2:c.11572G>T	XP_016865457.1:p.Glu3858Ter
XM_017009969.2:c.11572G>T	XP_016865458.1:p.Glu3858Ter
XM_017009970.2:c.11572G>T	XP_016865459.1:p.Glu3858Ter
XM_017009971.2:c.11572G>T	XP_016865460.1:p.Glu3858Ter
XM_017009972.1:c.4690G>T	XP_016865461.1:p.Glu1564Ter
XM_017009973.1:c.4669G>T	XP_016865462.1:p.Glu1557Ter
NR_003149.2:n.11567G>T