Canonical Allele Identifier: CA360396408

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1373335521
• gnomAD v3: 5-90712421-T-A
• gnomAD v4: 5-90712421-T-A
• MyVariant Identifiers: chr5:g.90008238T>A (hg19) ; chr5:g.90712421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712421T>A , CM000667.2:g.90712421T>A	GRCh38
NC_000005.9:g.90008238T>A , CM000667.1:g.90008238T>A	GRCh37
NC_000005.8:g.90043994T>A	NCBI36
NG_007083.1:g.158622T>A
NG_007083.2:g.188078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9177T>A MANE Select	ENSP00000384582.2:p.Asn3059Lys
ENST00000639431.1:c.265+36212T>A	ENSP00000491057.1:n.265+36212T>A
ENST00000639473.1:n.4636T>A
ENST00000640012.1:c.2984T>A
ENST00000640374.1:n.2321T>A
ENST00000640779.1:c.3906T>A
ENST00000405460.6:c.9177T>A	ENSP00000384582.2:p.Asn3059Lys
ENST00000509621.1:c.1874T>A
NM_032119.3:c.9177T>A	NP_115495.3:p.Asn3059Lys
NR_003149.1:n.9190T>A
XM_011543675.1:c.9174T>A	XP_011541977.1:p.Asn3058Lys
XM_011543676.1:c.9096T>A	XP_011541978.1:p.Asn3032Lys
XM_011543677.1:c.6480T>A	XP_011541979.1:p.Asn2160Lys
XM_011543678.1:c.9177T>A	XP_011541980.1:p.Asn3059Lys
XM_011543679.1:c.9177T>A	XP_011541981.1:p.Asn3059Lys
XR_948560.1:n.437-12A>T
NM_032119.4:c.9177T>A MANE Select	NP_115495.3:p.Asn3059Lys
XM_017009963.2:c.9198T>A	XP_016865452.1:p.Asn3066Lys
XM_017009964.2:c.9195T>A	XP_016865453.1:p.Asn3065Lys
XM_017009965.1:c.9195T>A	XP_016865454.1:p.Asn3065Lys
XM_017009966.2:c.9117T>A	XP_016865455.1:p.Asn3039Lys
XM_017009967.1:c.9102T>A	XP_016865456.1:p.Asn3034Lys
XM_017009968.2:c.9198T>A	XP_016865457.1:p.Asn3066Lys
XM_017009969.2:c.9198T>A	XP_016865458.1:p.Asn3066Lys
XM_017009970.2:c.9198T>A	XP_016865459.1:p.Asn3066Lys
XM_017009971.2:c.9198T>A	XP_016865460.1:p.Asn3066Lys
XM_017009972.1:c.2316T>A	XP_016865461.1:p.Asn772Lys
XM_017009973.1:c.2295T>A	XP_016865462.1:p.Asn765Lys
XM_017009974.2:c.9198T>A	XP_016865463.1:p.Asn3066Lys
NR_003149.2:n.9193T>A