Canonical Allele Identifier: CA360388641

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89999492A>C (hg19) ; chr5:g.90703675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703675A>C , CM000667.2:g.90703675A>C	GRCh38
NC_000005.9:g.89999492A>C , CM000667.1:g.89999492A>C	GRCh37
NC_000005.8:g.90035248A>C	NCBI36
NG_007083.1:g.149876A>C
NG_007083.2:g.179332A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8166A>C MANE Select	ENSP00000384582.2:p.Leu2722Phe
ENST00000639431.1:c.265+27466A>C	ENSP00000491057.1:n.265+27466A>C
ENST00000639473.1:n.3625A>C
ENST00000640012.1:c.1973A>C
ENST00000640374.1:n.1310A>C
ENST00000640403.1:c.5457A>C	ENSP00000492531.1:p.Leu1819Phe
ENST00000640779.1:c.2895A>C
ENST00000405460.6:c.8166A>C	ENSP00000384582.2:p.Leu2722Phe
ENST00000509621.1:c.863A>C
NM_032119.3:c.8166A>C	NP_115495.3:p.Leu2722Phe
NR_003149.1:n.8179A>C
XM_011543675.1:c.8163A>C	XP_011541977.1:p.Leu2721Phe
XM_011543676.1:c.8085A>C	XP_011541978.1:p.Leu2695Phe
XM_011543677.1:c.5469A>C	XP_011541979.1:p.Leu1823Phe
XM_011543678.1:c.8166A>C	XP_011541980.1:p.Leu2722Phe
XM_011543679.1:c.8166A>C	XP_011541981.1:p.Leu2722Phe
NM_032119.4:c.8166A>C MANE Select	NP_115495.3:p.Leu2722Phe
XM_017009963.2:c.8166A>C	XP_016865452.1:p.Leu2722Phe
XM_017009964.2:c.8163A>C	XP_016865453.1:p.Leu2721Phe
XM_017009965.1:c.8163A>C	XP_016865454.1:p.Leu2721Phe
XM_017009966.2:c.8085A>C	XP_016865455.1:p.Leu2695Phe
XM_017009967.1:c.8070A>C	XP_016865456.1:p.Leu2690Phe
XM_017009968.2:c.8166A>C	XP_016865457.1:p.Leu2722Phe
XM_017009969.2:c.8166A>C	XP_016865458.1:p.Leu2722Phe
XM_017009970.2:c.8166A>C	XP_016865459.1:p.Leu2722Phe
XM_017009971.2:c.8166A>C	XP_016865460.1:p.Leu2722Phe
XM_017009972.1:c.1284A>C	XP_016865461.1:p.Leu428Phe
XM_017009973.1:c.1284A>C	XP_016865462.1:p.Leu428Phe
XM_017009974.2:c.8166A>C	XP_016865463.1:p.Leu2722Phe
NR_003149.2:n.8182A>C