Canonical Allele Identifier: CA445468676

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725230C>T , CM000667.2:g.90725230C>T	GRCh38
NC_000005.9:g.90021047C>T , CM000667.1:g.90021047C>T	GRCh37
NC_000005.8:g.90056803C>T	NCBI36
NG_007083.1:g.171431C>T
NG_007083.2:g.200887C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10051C>T MANE Select	NP_115495.3:p.Leu3351=
ENST00000405460.9:c.10051C>T MANE Select	ENSP00000384582.2:p.Leu3351=
NM_032119.3:c.10051C>T	NP_115495.3:p.Leu3351=
NR_003149.1:n.10064C>T
NR_003149.2:n.10067C>T
ENST00000405460.6:c.10051C>T	ENSP00000384582.2:p.Leu3351=
ENST00000509621.1:c.2748C>T
ENST00000639431.1:c.265+49021C>T	ENSP00000491057.1:n.265+49021C>T
ENST00000640374.1:n.3195C>T
ENST00000640464.1:n.470C>T
XM_011543675.1:c.10048C>T	XP_011541977.1:p.Leu3350=
XM_011543676.1:c.9970C>T	XP_011541978.1:p.Leu3324=
XM_011543677.1:c.7354C>T	XP_011541979.1:p.Leu2452=
XM_011543678.1:c.10051C>T	XP_011541980.1:p.Leu3351=
XM_011543679.1:c.10051C>T	XP_011541981.1:p.Leu3351=
XM_017009963.2:c.10072C>T	XP_016865452.1:p.Leu3358=
XM_017009964.2:c.10069C>T	XP_016865453.1:p.Leu3357=
XM_017009965.1:c.10069C>T	XP_016865454.1:p.Leu3357=
XM_017009966.2:c.9991C>T	XP_016865455.1:p.Leu3331=
XM_017009967.1:c.9976C>T	XP_016865456.1:p.Leu3326=
XM_017009968.2:c.10072C>T	XP_016865457.1:p.Leu3358=
XM_017009969.2:c.10072C>T	XP_016865458.1:p.Leu3358=
XM_017009970.2:c.10072C>T	XP_016865459.1:p.Leu3358=
XM_017009971.2:c.10072C>T	XP_016865460.1:p.Leu3358=
XM_017009972.1:c.3190C>T	XP_016865461.1:p.Leu1064=
XM_017009973.1:c.3169C>T	XP_016865462.1:p.Leu1057=
XM_017009974.2:c.10072C>T	XP_016865463.1:p.Leu3358=
XR_001742802.1:n.2523-9421G>A
XR_948560.1:n.272-9421G>A