Canonical Allele Identifier: CA360409171

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041503A>T (hg19) ; chr5:g.90745686A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745686A>T , CM000667.2:g.90745686A>T	GRCh38
NC_000005.9:g.90041503A>T , CM000667.1:g.90041503A>T	GRCh37
NC_000005.8:g.90077259A>T	NCBI36
NG_007083.1:g.191887A>T
NG_007083.2:g.221343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10865A>T MANE Select	ENSP00000384582.2:p.Lys3622Ile
ENST00000639431.1:c.265+69477A>T	ENSP00000491057.1:n.265+69477A>T
ENST00000640374.1:n.4009A>T
ENST00000640464.1:n.1284A>T
ENST00000405460.6:c.10865A>T	ENSP00000384582.2:p.Lys3622Ile
ENST00000509621.1:c.3562A>T
NM_032119.3:c.10865A>T	NP_115495.3:p.Lys3622Ile
NR_003149.1:n.10878A>T
XM_011543675.1:c.10862A>T	XP_011541977.1:p.Lys3621Ile
XM_011543676.1:c.10784A>T	XP_011541978.1:p.Lys3595Ile
XM_011543677.1:c.8168A>T	XP_011541979.1:p.Lys2723Ile
XM_011543678.1:c.10865A>T	XP_011541980.1:p.Lys3622Ile
XM_011543679.1:c.*87A>T	XP_011541981.1:n.*87A>T
NM_032119.4:c.10865A>T MANE Select	NP_115495.3:p.Lys3622Ile
XM_017009963.2:c.10886A>T	XP_016865452.1:p.Lys3629Ile
XM_017009964.2:c.10883A>T	XP_016865453.1:p.Lys3628Ile
XM_017009965.1:c.10883A>T	XP_016865454.1:p.Lys3628Ile
XM_017009966.2:c.10805A>T	XP_016865455.1:p.Lys3602Ile
XM_017009967.1:c.10790A>T	XP_016865456.1:p.Lys3597Ile
XM_017009968.2:c.10886A>T	XP_016865457.1:p.Lys3629Ile
XM_017009969.2:c.10886A>T	XP_016865458.1:p.Lys3629Ile
XM_017009970.2:c.10886A>T	XP_016865459.1:p.Lys3629Ile
XM_017009971.2:c.10886A>T	XP_016865460.1:p.Lys3629Ile
XM_017009972.1:c.4004A>T	XP_016865461.1:p.Lys1335Ile
XM_017009973.1:c.3983A>T	XP_016865462.1:p.Lys1328Ile
XM_017009974.2:c.*87A>T	XP_016865463.1:n.*87A>T
NR_003149.2:n.10881A>T