Canonical Allele Identifier: CA360397751

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012523T>A (hg19) ; chr5:g.90716706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716706T>A , CM000667.2:g.90716706T>A	GRCh38
NC_000005.9:g.90012523T>A , CM000667.1:g.90012523T>A	GRCh37
NC_000005.8:g.90048279T>A	NCBI36
NG_007083.1:g.162907T>A
NG_007083.2:g.192363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9424T>A MANE Select	ENSP00000384582.2:p.Leu3142Ile
ENST00000639431.1:c.265+40497T>A	ENSP00000491057.1:n.265+40497T>A
ENST00000639473.1:n.4883T>A
ENST00000640012.1:c.3231T>A
ENST00000640374.1:n.2568T>A
ENST00000640779.1:c.4153T>A
ENST00000405460.6:c.9424T>A	ENSP00000384582.2:p.Leu3142Ile
ENST00000509621.1:c.2121T>A
NM_032119.3:c.9424T>A	NP_115495.3:p.Leu3142Ile
NR_003149.1:n.9437T>A
XM_011543675.1:c.9421T>A	XP_011541977.1:p.Leu3141Ile
XM_011543676.1:c.9343T>A	XP_011541978.1:p.Leu3115Ile
XM_011543677.1:c.6727T>A	XP_011541979.1:p.Leu2243Ile
XM_011543678.1:c.9424T>A	XP_011541980.1:p.Leu3142Ile
XM_011543679.1:c.9424T>A	XP_011541981.1:p.Leu3142Ile
XR_948560.1:n.272-897A>T
NM_032119.4:c.9424T>A MANE Select	NP_115495.3:p.Leu3142Ile
XM_017009963.2:c.9445T>A	XP_016865452.1:p.Leu3149Ile
XM_017009964.2:c.9442T>A	XP_016865453.1:p.Leu3148Ile
XM_017009965.1:c.9442T>A	XP_016865454.1:p.Leu3148Ile
XM_017009966.2:c.9364T>A	XP_016865455.1:p.Leu3122Ile
XM_017009967.1:c.9349T>A	XP_016865456.1:p.Leu3117Ile
XM_017009968.2:c.9445T>A	XP_016865457.1:p.Leu3149Ile
XM_017009969.2:c.9445T>A	XP_016865458.1:p.Leu3149Ile
XM_017009970.2:c.9445T>A	XP_016865459.1:p.Leu3149Ile
XM_017009971.2:c.9445T>A	XP_016865460.1:p.Leu3149Ile
XM_017009972.1:c.2563T>A	XP_016865461.1:p.Leu855Ile
XM_017009973.1:c.2542T>A	XP_016865462.1:p.Leu848Ile
XM_017009974.2:c.9445T>A	XP_016865463.1:p.Leu3149Ile
XR_001742802.1:n.2523-897A>T
NR_003149.2:n.9440T>A