Canonical Allele Identifier: CA360396373

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712405-T-A
• MyVariant Identifiers: chr5:g.90008222T>A (hg19) ; chr5:g.90712405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712405T>A , CM000667.2:g.90712405T>A	GRCh38
NC_000005.9:g.90008222T>A , CM000667.1:g.90008222T>A	GRCh37
NC_000005.8:g.90043978T>A	NCBI36
NG_007083.1:g.158606T>A
NG_007083.2:g.188062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9161T>A MANE Select	ENSP00000384582.2:p.Leu3054Gln
ENST00000639431.1:c.265+36196T>A	ENSP00000491057.1:n.265+36196T>A
ENST00000639473.1:n.4620T>A
ENST00000640012.1:c.2968T>A
ENST00000640374.1:n.2305T>A
ENST00000640779.1:c.3890T>A
ENST00000405460.6:c.9161T>A	ENSP00000384582.2:p.Leu3054Gln
ENST00000509621.1:c.1858T>A
NM_032119.3:c.9161T>A	NP_115495.3:p.Leu3054Gln
NR_003149.1:n.9174T>A
XM_011543675.1:c.9158T>A	XP_011541977.1:p.Leu3053Gln
XM_011543676.1:c.9080T>A	XP_011541978.1:p.Leu3027Gln
XM_011543677.1:c.6464T>A	XP_011541979.1:p.Leu2155Gln
XM_011543678.1:c.9161T>A	XP_011541980.1:p.Leu3054Gln
XM_011543679.1:c.9161T>A	XP_011541981.1:p.Leu3054Gln
XR_948560.1:n.441A>T
NM_032119.4:c.9161T>A MANE Select	NP_115495.3:p.Leu3054Gln
XM_017009963.2:c.9182T>A	XP_016865452.1:p.Leu3061Gln
XM_017009964.2:c.9179T>A	XP_016865453.1:p.Leu3060Gln
XM_017009965.1:c.9179T>A	XP_016865454.1:p.Leu3060Gln
XM_017009966.2:c.9101T>A	XP_016865455.1:p.Leu3034Gln
XM_017009967.1:c.9086T>A	XP_016865456.1:p.Leu3029Gln
XM_017009968.2:c.9182T>A	XP_016865457.1:p.Leu3061Gln
XM_017009969.2:c.9182T>A	XP_016865458.1:p.Leu3061Gln
XM_017009970.2:c.9182T>A	XP_016865459.1:p.Leu3061Gln
XM_017009971.2:c.9182T>A	XP_016865460.1:p.Leu3061Gln
XM_017009972.1:c.2300T>A	XP_016865461.1:p.Leu767Gln
XM_017009973.1:c.2279T>A	XP_016865462.1:p.Leu760Gln
XM_017009974.2:c.9182T>A	XP_016865463.1:p.Leu3061Gln
NR_003149.2:n.9177T>A