Canonical Allele Identifier: CA3338512

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90625167G>T , CM000667.2:g.90625167G>T	GRCh38
NC_000005.9:g.89920984G>T , CM000667.1:g.89920984G>T	GRCh37
NC_000005.8:g.89956740G>T	NCBI36
NG_007083.1:g.71368G>T
NG_007083.2:g.100824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.596G>T MANE Select	ENSP00000384582.2:p.Ser199Ile
ENST00000638316.1:n.806G>T
ENST00000638638.1:n.1003G>T
ENST00000640083.1:n.301G>T
ENST00000640109.1:n.692G>T
ENST00000640281.1:n.655G>T
ENST00000405460.6:c.596G>T	ENSP00000384582.2:p.Ser199Ile
NM_032119.3:c.596G>T	NP_115495.3:p.Ser199Ile
NR_003149.1:n.692G>T
XM_011543675.1:c.596G>T	XP_011541977.1:p.Ser199Ile
XM_011543676.1:c.596G>T	XP_011541978.1:p.Ser199Ile
XM_011543678.1:c.596G>T	XP_011541980.1:p.Ser199Ile
XM_011543679.1:c.596G>T	XP_011541981.1:p.Ser199Ile
NM_032119.4:c.596G>T MANE Select	NP_115495.3:p.Ser199Ile
XM_017009963.2:c.596G>T	XP_016865452.1:p.Ser199Ile
XM_017009964.2:c.596G>T	XP_016865453.1:p.Ser199Ile
XM_017009965.1:c.593G>T	XP_016865454.1:p.Ser198Ile
XM_017009966.2:c.596G>T	XP_016865455.1:p.Ser199Ile
XM_017009967.1:c.500G>T	XP_016865456.1:p.Ser167Ile
XM_017009968.2:c.596G>T	XP_016865457.1:p.Ser199Ile
XM_017009969.2:c.596G>T	XP_016865458.1:p.Ser199Ile
XM_017009970.2:c.596G>T	XP_016865459.1:p.Ser199Ile
XM_017009971.2:c.596G>T	XP_016865460.1:p.Ser199Ile
XM_017009974.2:c.596G>T	XP_016865463.1:p.Ser199Ile
NR_003149.2:n.695G>T