Canonical Allele Identifier: CA360367504

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755184-C-A
• MyVariant Identifiers: chr5:g.90051001C>A (hg19) ; chr5:g.90755184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755184C>A , CM000667.2:g.90755184C>A	GRCh38
NC_000005.9:g.90051001C>A , CM000667.1:g.90051001C>A	GRCh37
NC_000005.8:g.90086757C>A	NCBI36
NG_007083.1:g.201385C>A
NG_007083.2:g.230841C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11579C>A MANE Select	ENSP00000384582.2:p.Pro3860Gln
ENST00000425867.3:c.710C>A	ENSP00000392618.3:p.Pro237Gln
ENST00000639431.1:c.265+78975C>A	ENSP00000491057.1:n.265+78975C>A
ENST00000640374.1:n.4723C>A
ENST00000640464.1:n.1998C>A
ENST00000405460.6:c.11579C>A	ENSP00000384582.2:p.Pro3860Gln
ENST00000509621.1:c.4276C>A
NM_032119.3:c.11579C>A	NP_115495.3:p.Pro3860Gln
NR_003149.1:n.11592C>A
XM_011543675.1:c.11576C>A	XP_011541977.1:p.Pro3859Gln
XM_011543676.1:c.11498C>A	XP_011541978.1:p.Pro3833Gln
XM_011543677.1:c.8882C>A	XP_011541979.1:p.Pro2961Gln
XM_011543678.1:c.11579C>A	XP_011541980.1:p.Pro3860Gln
NM_032119.4:c.11579C>A MANE Select	NP_115495.3:p.Pro3860Gln
XM_017009963.2:c.11600C>A	XP_016865452.1:p.Pro3867Gln
XM_017009964.2:c.11597C>A	XP_016865453.1:p.Pro3866Gln
XM_017009965.1:c.11597C>A	XP_016865454.1:p.Pro3866Gln
XM_017009966.2:c.11519C>A	XP_016865455.1:p.Pro3840Gln
XM_017009967.1:c.11504C>A	XP_016865456.1:p.Pro3835Gln
XM_017009968.2:c.11600C>A	XP_016865457.1:p.Pro3867Gln
XM_017009969.2:c.11600C>A	XP_016865458.1:p.Pro3867Gln
XM_017009970.2:c.11600C>A	XP_016865459.1:p.Pro3867Gln
XM_017009971.2:c.11600C>A	XP_016865460.1:p.Pro3867Gln
XM_017009972.1:c.4718C>A	XP_016865461.1:p.Pro1573Gln
XM_017009973.1:c.4697C>A	XP_016865462.1:p.Pro1566Gln
NR_003149.2:n.11595C>A