Canonical Allele Identifier: CA360366870

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755093-G-C
• MyVariant Identifiers: chr5:g.90050910G>C (hg19) ; chr5:g.90755093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755093G>C , CM000667.2:g.90755093G>C	GRCh38
NC_000005.9:g.90050910G>C , CM000667.1:g.90050910G>C	GRCh37
NC_000005.8:g.90086666G>C	NCBI36
NG_007083.1:g.201294G>C
NG_007083.2:g.230750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11488G>C MANE Select	ENSP00000384582.2:p.Ala3830Pro
ENST00000425867.3:c.619G>C	ENSP00000392618.3:p.Ala207Pro
ENST00000639431.1:c.265+78884G>C	ENSP00000491057.1:n.265+78884G>C
ENST00000640374.1:n.4632G>C
ENST00000640464.1:n.1907G>C
ENST00000405460.6:c.11488G>C	ENSP00000384582.2:p.Ala3830Pro
ENST00000509621.1:c.4185G>C
NM_032119.3:c.11488G>C	NP_115495.3:p.Ala3830Pro
NR_003149.1:n.11501G>C
XM_011543675.1:c.11485G>C	XP_011541977.1:p.Ala3829Pro
XM_011543676.1:c.11407G>C	XP_011541978.1:p.Ala3803Pro
XM_011543677.1:c.8791G>C	XP_011541979.1:p.Ala2931Pro
XM_011543678.1:c.11488G>C	XP_011541980.1:p.Ala3830Pro
NM_032119.4:c.11488G>C MANE Select	NP_115495.3:p.Ala3830Pro
XM_017009963.2:c.11509G>C	XP_016865452.1:p.Ala3837Pro
XM_017009964.2:c.11506G>C	XP_016865453.1:p.Ala3836Pro
XM_017009965.1:c.11506G>C	XP_016865454.1:p.Ala3836Pro
XM_017009966.2:c.11428G>C	XP_016865455.1:p.Ala3810Pro
XM_017009967.1:c.11413G>C	XP_016865456.1:p.Ala3805Pro
XM_017009968.2:c.11509G>C	XP_016865457.1:p.Ala3837Pro
XM_017009969.2:c.11509G>C	XP_016865458.1:p.Ala3837Pro
XM_017009970.2:c.11509G>C	XP_016865459.1:p.Ala3837Pro
XM_017009971.2:c.11509G>C	XP_016865460.1:p.Ala3837Pro
XM_017009972.1:c.4627G>C	XP_016865461.1:p.Ala1543Pro
XM_017009973.1:c.4606G>C	XP_016865462.1:p.Ala1536Pro
NR_003149.2:n.11504G>C