Canonical Allele Identifier: CA360388777

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2751726
• ClinVar RCV Id: RCV003571027
• MyVariant Identifiers: chr5:g.89999508A>T (hg19) ; chr5:g.90703691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703691A>T , CM000667.2:g.90703691A>T	GRCh38
NC_000005.9:g.89999508A>T , CM000667.1:g.89999508A>T	GRCh37
NC_000005.8:g.90035264A>T	NCBI36
NG_007083.1:g.149892A>T
NG_007083.2:g.179348A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.8182A>T MANE Select	ENSP00000384582.2:p.Arg2728Ter
ENST00000639431.1:c.265+27482A>T	ENSP00000491057.1:n.265+27482A>T
ENST00000639473.1:n.3641A>T
ENST00000640012.1:c.1989A>T
ENST00000640374.1:n.1326A>T
ENST00000640403.1:c.5473A>T	ENSP00000492531.1:p.Arg1825Ter
ENST00000640779.1:c.2911A>T
ENST00000405460.6:c.8182A>T	ENSP00000384582.2:p.Arg2728Ter
ENST00000509621.1:c.879A>T
NM_032119.3:c.8182A>T	NP_115495.3:p.Arg2728Ter
NR_003149.1:n.8195A>T
XM_011543675.1:c.8179A>T	XP_011541977.1:p.Arg2727Ter
XM_011543676.1:c.8101A>T	XP_011541978.1:p.Arg2701Ter
XM_011543677.1:c.5485A>T	XP_011541979.1:p.Arg1829Ter
XM_011543678.1:c.8182A>T	XP_011541980.1:p.Arg2728Ter
XM_011543679.1:c.8182A>T	XP_011541981.1:p.Arg2728Ter
NM_032119.4:c.8182A>T MANE Select	NP_115495.3:p.Arg2728Ter
XM_017009963.2:c.8182A>T	XP_016865452.1:p.Arg2728Ter
XM_017009964.2:c.8179A>T	XP_016865453.1:p.Arg2727Ter
XM_017009965.1:c.8179A>T	XP_016865454.1:p.Arg2727Ter
XM_017009966.2:c.8101A>T	XP_016865455.1:p.Arg2701Ter
XM_017009967.1:c.8086A>T	XP_016865456.1:p.Arg2696Ter
XM_017009968.2:c.8182A>T	XP_016865457.1:p.Arg2728Ter
XM_017009969.2:c.8182A>T	XP_016865458.1:p.Arg2728Ter
XM_017009970.2:c.8182A>T	XP_016865459.1:p.Arg2728Ter
XM_017009971.2:c.8182A>T	XP_016865460.1:p.Arg2728Ter
XM_017009972.1:c.1300A>T	XP_016865461.1:p.Arg434Ter
XM_017009973.1:c.1300A>T	XP_016865462.1:p.Arg434Ter
XM_017009974.2:c.8182A>T	XP_016865463.1:p.Arg2728Ter
NR_003149.2:n.8198A>T