Canonical Allele Identifier: CA360371853

Gene: ADGRV1

Linked Data

• COSMIC: COSM5466595
• MyVariant Identifiers: chr5:g.89988572A>C (hg19) ; chr5:g.90692755A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692755A>C , CM000667.2:g.90692755A>C	GRCh38
NC_000005.9:g.89988572A>C , CM000667.1:g.89988572A>C	GRCh37
NC_000005.8:g.90024328A>C	NCBI36
NG_007083.1:g.138956A>C
NG_007083.2:g.168412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7102A>C MANE Select	ENSP00000384582.2:p.Ser2368Arg
ENST00000639431.1:c.265+16546A>C	ENSP00000491057.1:n.265+16546A>C
ENST00000639473.1:n.2561A>C
ENST00000640012.1:c.909A>C
ENST00000640374.1:n.246A>C
ENST00000640403.1:c.4393A>C	ENSP00000492531.1:p.Ser1465Arg
ENST00000640779.1:c.1831A>C
ENST00000405460.6:c.7102A>C	ENSP00000384582.2:p.Ser2368Arg
NM_032119.3:c.7102A>C	NP_115495.3:p.Ser2368Arg
NR_003149.1:n.7115A>C
XM_011543675.1:c.7099A>C	XP_011541977.1:p.Ser2367Arg
XM_011543676.1:c.7021A>C	XP_011541978.1:p.Ser2341Arg
XM_011543677.1:c.4405A>C	XP_011541979.1:p.Ser1469Arg
XM_011543678.1:c.7102A>C	XP_011541980.1:p.Ser2368Arg
XM_011543679.1:c.7102A>C	XP_011541981.1:p.Ser2368Arg
NM_032119.4:c.7102A>C MANE Select	NP_115495.3:p.Ser2368Arg
XM_017009963.2:c.7102A>C	XP_016865452.1:p.Ser2368Arg
XM_017009964.2:c.7099A>C	XP_016865453.1:p.Ser2367Arg
XM_017009965.1:c.7099A>C	XP_016865454.1:p.Ser2367Arg
XM_017009966.2:c.7021A>C	XP_016865455.1:p.Ser2341Arg
XM_017009967.1:c.7006A>C	XP_016865456.1:p.Ser2336Arg
XM_017009968.2:c.7102A>C	XP_016865457.1:p.Ser2368Arg
XM_017009969.2:c.7102A>C	XP_016865458.1:p.Ser2368Arg
XM_017009970.2:c.7102A>C	XP_016865459.1:p.Ser2368Arg
XM_017009971.2:c.7102A>C	XP_016865460.1:p.Ser2368Arg
XM_017009972.1:c.220A>C	XP_016865461.1:p.Ser74Arg
XM_017009973.1:c.220A>C	XP_016865462.1:p.Ser74Arg
XM_017009974.2:c.7102A>C	XP_016865463.1:p.Ser2368Arg
NR_003149.2:n.7118A>C