Canonical Allele Identifier: CA360409092

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745668-A-C
• MyVariant Identifiers: chr5:g.90041485A>C (hg19) ; chr5:g.90745668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745668A>C , CM000667.2:g.90745668A>C	GRCh38
NC_000005.9:g.90041485A>C , CM000667.1:g.90041485A>C	GRCh37
NC_000005.8:g.90077241A>C	NCBI36
NG_007083.1:g.191869A>C
NG_007083.2:g.221325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10847A>C MANE Select	ENSP00000384582.2:p.Glu3616Ala
ENST00000639431.1:c.265+69459A>C	ENSP00000491057.1:n.265+69459A>C
ENST00000640374.1:n.3991A>C
ENST00000640464.1:n.1266A>C
ENST00000405460.6:c.10847A>C	ENSP00000384582.2:p.Glu3616Ala
ENST00000509621.1:c.3544A>C
NM_032119.3:c.10847A>C	NP_115495.3:p.Glu3616Ala
NR_003149.1:n.10860A>C
XM_011543675.1:c.10844A>C	XP_011541977.1:p.Glu3615Ala
XM_011543676.1:c.10766A>C	XP_011541978.1:p.Glu3589Ala
XM_011543677.1:c.8150A>C	XP_011541979.1:p.Glu2717Ala
XM_011543678.1:c.10847A>C	XP_011541980.1:p.Glu3616Ala
XM_011543679.1:c.*69A>C	XP_011541981.1:n.*69A>C
NM_032119.4:c.10847A>C MANE Select	NP_115495.3:p.Glu3616Ala
XM_017009963.2:c.10868A>C	XP_016865452.1:p.Glu3623Ala
XM_017009964.2:c.10865A>C	XP_016865453.1:p.Glu3622Ala
XM_017009965.1:c.10865A>C	XP_016865454.1:p.Glu3622Ala
XM_017009966.2:c.10787A>C	XP_016865455.1:p.Glu3596Ala
XM_017009967.1:c.10772A>C	XP_016865456.1:p.Glu3591Ala
XM_017009968.2:c.10868A>C	XP_016865457.1:p.Glu3623Ala
XM_017009969.2:c.10868A>C	XP_016865458.1:p.Glu3623Ala
XM_017009970.2:c.10868A>C	XP_016865459.1:p.Glu3623Ala
XM_017009971.2:c.10868A>C	XP_016865460.1:p.Glu3623Ala
XM_017009972.1:c.3986A>C	XP_016865461.1:p.Glu1329Ala
XM_017009973.1:c.3965A>C	XP_016865462.1:p.Glu1322Ala
XM_017009974.2:c.*69A>C	XP_016865463.1:n.*69A>C
NR_003149.2:n.10863A>C