Canonical Allele Identifier: CA3340475

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716551C>T , CM000667.2:g.90716551C>T	GRCh38
NC_000005.9:g.90012368C>T , CM000667.1:g.90012368C>T	GRCh37
NC_000005.8:g.90048124C>T	NCBI36
NG_007083.1:g.162752C>T
NG_007083.2:g.192208C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9269C>T MANE Select	NP_115495.3:p.Thr3090Ile
ENST00000405460.9:c.9269C>T MANE Select	ENSP00000384582.2:p.Thr3090Ile
NM_032119.3:c.9269C>T	NP_115495.3:p.Thr3090Ile
NR_003149.1:n.9282C>T
NR_003149.2:n.9285C>T
ENST00000405460.6:c.9269C>T	ENSP00000384582.2:p.Thr3090Ile
ENST00000509621.1:c.1966C>T
ENST00000639431.1:c.265+40342C>T	ENSP00000491057.1:n.265+40342C>T
ENST00000639473.1:n.4728C>T
ENST00000640012.1:c.3076C>T
ENST00000640374.1:n.2413C>T
ENST00000640779.1:c.3998C>T
XM_011543675.1:c.9266C>T	XP_011541977.1:p.Thr3089Ile
XM_011543676.1:c.9188C>T	XP_011541978.1:p.Thr3063Ile
XM_011543677.1:c.6572C>T	XP_011541979.1:p.Thr2191Ile
XM_011543678.1:c.9269C>T	XP_011541980.1:p.Thr3090Ile
XM_011543679.1:c.9269C>T	XP_011541981.1:p.Thr3090Ile
XM_017009963.2:c.9290C>T	XP_016865452.1:p.Thr3097Ile
XM_017009964.2:c.9287C>T	XP_016865453.1:p.Thr3096Ile
XM_017009965.1:c.9287C>T	XP_016865454.1:p.Thr3096Ile
XM_017009966.2:c.9209C>T	XP_016865455.1:p.Thr3070Ile
XM_017009967.1:c.9194C>T	XP_016865456.1:p.Thr3065Ile
XM_017009968.2:c.9290C>T	XP_016865457.1:p.Thr3097Ile
XM_017009969.2:c.9290C>T	XP_016865458.1:p.Thr3097Ile
XM_017009970.2:c.9290C>T	XP_016865459.1:p.Thr3097Ile
XM_017009971.2:c.9290C>T	XP_016865460.1:p.Thr3097Ile
XM_017009972.1:c.2408C>T	XP_016865461.1:p.Thr803Ile
XM_017009973.1:c.2387C>T	XP_016865462.1:p.Thr796Ile
XM_017009974.2:c.9290C>T	XP_016865463.1:p.Thr3097Ile
XR_001742802.1:n.2523-742G>A
XR_948560.1:n.272-742G>A