Canonical Allele Identifier: CA360414218

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89979881T>G (hg19) ; chr5:g.90684064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684064T>G , CM000667.2:g.90684064T>G	GRCh38
NC_000005.9:g.89979881T>G , CM000667.1:g.89979881T>G	GRCh37
NC_000005.8:g.90015637T>G	NCBI36
NG_007083.1:g.130265T>G
NG_007083.2:g.159721T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6143T>G MANE Select	ENSP00000384582.2:p.Leu2048Arg
ENST00000639431.1:c.265+7855T>G	ENSP00000491057.1:n.265+7855T>G
ENST00000639473.1:n.1602T>G
ENST00000640012.1:c.165-1716T>G
ENST00000640403.1:c.3434T>G	ENSP00000492531.1:p.Leu1145Arg
ENST00000640779.1:c.955T>G
ENST00000405460.6:c.6143T>G	ENSP00000384582.2:p.Leu2048Arg
NM_032119.3:c.6143T>G	NP_115495.3:p.Leu2048Arg
NR_003149.1:n.6239T>G
XM_011543675.1:c.6140T>G	XP_011541977.1:p.Leu2047Arg
XM_011543676.1:c.6062T>G	XP_011541978.1:p.Leu2021Arg
XM_011543677.1:c.3446T>G	XP_011541979.1:p.Leu1149Arg
XM_011543678.1:c.6143T>G	XP_011541980.1:p.Leu2048Arg
XM_011543679.1:c.6143T>G	XP_011541981.1:p.Leu2048Arg
NM_032119.4:c.6143T>G MANE Select	NP_115495.3:p.Leu2048Arg
XM_017009963.2:c.6143T>G	XP_016865452.1:p.Leu2048Arg
XM_017009964.2:c.6140T>G	XP_016865453.1:p.Leu2047Arg
XM_017009965.1:c.6140T>G	XP_016865454.1:p.Leu2047Arg
XM_017009966.2:c.6062T>G	XP_016865455.1:p.Leu2021Arg
XM_017009967.1:c.6047T>G	XP_016865456.1:p.Leu2016Arg
XM_017009968.2:c.6143T>G	XP_016865457.1:p.Leu2048Arg
XM_017009969.2:c.6143T>G	XP_016865458.1:p.Leu2048Arg
XM_017009970.2:c.6143T>G	XP_016865459.1:p.Leu2048Arg
XM_017009971.2:c.6143T>G	XP_016865460.1:p.Leu2048Arg
XM_017009973.1:c.-657T>G	XP_016865462.1:n.-657T>G
XM_017009974.2:c.6143T>G	XP_016865463.1:p.Leu2048Arg
NR_003149.2:n.6242T>G