Canonical Allele Identifier: CA360371214

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1465151895
• gnomAD v4: 5-90692680-C-G
• MyVariant Identifiers: chr5:g.89988497C>G (hg19) ; chr5:g.90692680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692680C>G , CM000667.2:g.90692680C>G	GRCh38
NC_000005.9:g.89988497C>G , CM000667.1:g.89988497C>G	GRCh37
NC_000005.8:g.90024253C>G	NCBI36
NG_007083.1:g.138881C>G
NG_007083.2:g.168337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7027C>G MANE Select	ENSP00000384582.2:p.Pro2343Ala
ENST00000639431.1:c.265+16471C>G	ENSP00000491057.1:n.265+16471C>G
ENST00000639473.1:n.2486C>G
ENST00000640012.1:c.834C>G
ENST00000640374.1:n.171C>G
ENST00000640403.1:c.4318C>G	ENSP00000492531.1:p.Pro1440Ala
ENST00000640779.1:c.1756C>G
ENST00000405460.6:c.7027C>G	ENSP00000384582.2:p.Pro2343Ala
NM_032119.3:c.7027C>G	NP_115495.3:p.Pro2343Ala
NR_003149.1:n.7040C>G
XM_011543675.1:c.7024C>G	XP_011541977.1:p.Pro2342Ala
XM_011543676.1:c.6946C>G	XP_011541978.1:p.Pro2316Ala
XM_011543677.1:c.4330C>G	XP_011541979.1:p.Pro1444Ala
XM_011543678.1:c.7027C>G	XP_011541980.1:p.Pro2343Ala
XM_011543679.1:c.7027C>G	XP_011541981.1:p.Pro2343Ala
NM_032119.4:c.7027C>G MANE Select	NP_115495.3:p.Pro2343Ala
XM_017009963.2:c.7027C>G	XP_016865452.1:p.Pro2343Ala
XM_017009964.2:c.7024C>G	XP_016865453.1:p.Pro2342Ala
XM_017009965.1:c.7024C>G	XP_016865454.1:p.Pro2342Ala
XM_017009966.2:c.6946C>G	XP_016865455.1:p.Pro2316Ala
XM_017009967.1:c.6931C>G	XP_016865456.1:p.Pro2311Ala
XM_017009968.2:c.7027C>G	XP_016865457.1:p.Pro2343Ala
XM_017009969.2:c.7027C>G	XP_016865458.1:p.Pro2343Ala
XM_017009970.2:c.7027C>G	XP_016865459.1:p.Pro2343Ala
XM_017009971.2:c.7027C>G	XP_016865460.1:p.Pro2343Ala
XM_017009972.1:c.145C>G	XP_016865461.1:p.Pro49Ala
XM_017009973.1:c.145C>G	XP_016865462.1:p.Pro49Ala
XM_017009974.2:c.7027C>G	XP_016865463.1:p.Pro2343Ala
NR_003149.2:n.7043C>G