Canonical Allele Identifier: CA3339228

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90653245C>T , CM000667.2:g.90653245C>T	GRCh38
NC_000005.9:g.89949062C>T , CM000667.1:g.89949062C>T	GRCh37
NC_000005.8:g.89984818C>T	NCBI36
NG_007083.1:g.99446C>T
NG_007083.2:g.128902C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.3671C>T MANE Select	NP_115495.3:p.Thr1224Ile
ENST00000405460.9:c.3671C>T MANE Select	ENSP00000384582.2:p.Thr1224Ile
NM_032119.3:c.3671C>T	NP_115495.3:p.Thr1224Ile
NR_003149.1:n.3767C>T
NR_003149.2:n.3770C>T
ENST00000405460.6:c.3671C>T	ENSP00000384582.2:p.Thr1224Ile
ENST00000504142.1:c.2436C>T
ENST00000504142.2:n.2437C>T
ENST00000639676.1:n.1269C>T
ENST00000640403.1:c.962C>T	ENSP00000492531.1:p.Thr321Ile
XM_011543675.1:c.3671C>T	XP_011541977.1:p.Thr1224Ile
XM_011543676.1:c.3671C>T	XP_011541978.1:p.Thr1224Ile
XM_011543677.1:c.974C>T	XP_011541979.1:p.Thr325Ile
XM_011543678.1:c.3671C>T	XP_011541980.1:p.Thr1224Ile
XM_011543679.1:c.3671C>T	XP_011541981.1:p.Thr1224Ile
XM_017009963.2:c.3671C>T	XP_016865452.1:p.Thr1224Ile
XM_017009964.2:c.3671C>T	XP_016865453.1:p.Thr1224Ile
XM_017009965.1:c.3668C>T	XP_016865454.1:p.Thr1223Ile
XM_017009966.2:c.3671C>T	XP_016865455.1:p.Thr1224Ile
XM_017009967.1:c.3575C>T	XP_016865456.1:p.Thr1192Ile
XM_017009968.2:c.3671C>T	XP_016865457.1:p.Thr1224Ile
XM_017009969.2:c.3671C>T	XP_016865458.1:p.Thr1224Ile
XM_017009970.2:c.3671C>T	XP_016865459.1:p.Thr1224Ile
XM_017009971.2:c.3671C>T	XP_016865460.1:p.Thr1224Ile
XM_017009974.2:c.3671C>T	XP_016865463.1:p.Thr1224Ile