Canonical Allele Identifier: CA360371440

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988522C>A (hg19) ; chr5:g.90692705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692705C>A , CM000667.2:g.90692705C>A	GRCh38
NC_000005.9:g.89988522C>A , CM000667.1:g.89988522C>A	GRCh37
NC_000005.8:g.90024278C>A	NCBI36
NG_007083.1:g.138906C>A
NG_007083.2:g.168362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7052C>A MANE Select	ENSP00000384582.2:p.Thr2351Lys
ENST00000639431.1:c.265+16496C>A	ENSP00000491057.1:n.265+16496C>A
ENST00000639473.1:n.2511C>A
ENST00000640012.1:c.859C>A
ENST00000640374.1:n.196C>A
ENST00000640403.1:c.4343C>A	ENSP00000492531.1:p.Thr1448Lys
ENST00000640779.1:c.1781C>A
ENST00000405460.6:c.7052C>A	ENSP00000384582.2:p.Thr2351Lys
NM_032119.3:c.7052C>A	NP_115495.3:p.Thr2351Lys
NR_003149.1:n.7065C>A
XM_011543675.1:c.7049C>A	XP_011541977.1:p.Thr2350Lys
XM_011543676.1:c.6971C>A	XP_011541978.1:p.Thr2324Lys
XM_011543677.1:c.4355C>A	XP_011541979.1:p.Thr1452Lys
XM_011543678.1:c.7052C>A	XP_011541980.1:p.Thr2351Lys
XM_011543679.1:c.7052C>A	XP_011541981.1:p.Thr2351Lys
NM_032119.4:c.7052C>A MANE Select	NP_115495.3:p.Thr2351Lys
XM_017009963.2:c.7052C>A	XP_016865452.1:p.Thr2351Lys
XM_017009964.2:c.7049C>A	XP_016865453.1:p.Thr2350Lys
XM_017009965.1:c.7049C>A	XP_016865454.1:p.Thr2350Lys
XM_017009966.2:c.6971C>A	XP_016865455.1:p.Thr2324Lys
XM_017009967.1:c.6956C>A	XP_016865456.1:p.Thr2319Lys
XM_017009968.2:c.7052C>A	XP_016865457.1:p.Thr2351Lys
XM_017009969.2:c.7052C>A	XP_016865458.1:p.Thr2351Lys
XM_017009970.2:c.7052C>A	XP_016865459.1:p.Thr2351Lys
XM_017009971.2:c.7052C>A	XP_016865460.1:p.Thr2351Lys
XM_017009972.1:c.170C>A	XP_016865461.1:p.Thr57Lys
XM_017009973.1:c.170C>A	XP_016865462.1:p.Thr57Lys
XM_017009974.2:c.7052C>A	XP_016865463.1:p.Thr2351Lys
NR_003149.2:n.7068C>A