Canonical Allele Identifier: CA360371148

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988491A>C (hg19) ; chr5:g.90692674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692674A>C , CM000667.2:g.90692674A>C	GRCh38
NC_000005.9:g.89988491A>C , CM000667.1:g.89988491A>C	GRCh37
NC_000005.8:g.90024247A>C	NCBI36
NG_007083.1:g.138875A>C
NG_007083.2:g.168331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7021A>C MANE Select	ENSP00000384582.2:p.Ile2341Leu
ENST00000639431.1:c.265+16465A>C	ENSP00000491057.1:n.265+16465A>C
ENST00000639473.1:n.2480A>C
ENST00000640012.1:c.828A>C
ENST00000640374.1:n.165A>C
ENST00000640403.1:c.4312A>C	ENSP00000492531.1:p.Ile1438Leu
ENST00000640779.1:c.1750A>C
ENST00000405460.6:c.7021A>C	ENSP00000384582.2:p.Ile2341Leu
NM_032119.3:c.7021A>C	NP_115495.3:p.Ile2341Leu
NR_003149.1:n.7034A>C
XM_011543675.1:c.7018A>C	XP_011541977.1:p.Ile2340Leu
XM_011543676.1:c.6940A>C	XP_011541978.1:p.Ile2314Leu
XM_011543677.1:c.4324A>C	XP_011541979.1:p.Ile1442Leu
XM_011543678.1:c.7021A>C	XP_011541980.1:p.Ile2341Leu
XM_011543679.1:c.7021A>C	XP_011541981.1:p.Ile2341Leu
NM_032119.4:c.7021A>C MANE Select	NP_115495.3:p.Ile2341Leu
XM_017009963.2:c.7021A>C	XP_016865452.1:p.Ile2341Leu
XM_017009964.2:c.7018A>C	XP_016865453.1:p.Ile2340Leu
XM_017009965.1:c.7018A>C	XP_016865454.1:p.Ile2340Leu
XM_017009966.2:c.6940A>C	XP_016865455.1:p.Ile2314Leu
XM_017009967.1:c.6925A>C	XP_016865456.1:p.Ile2309Leu
XM_017009968.2:c.7021A>C	XP_016865457.1:p.Ile2341Leu
XM_017009969.2:c.7021A>C	XP_016865458.1:p.Ile2341Leu
XM_017009970.2:c.7021A>C	XP_016865459.1:p.Ile2341Leu
XM_017009971.2:c.7021A>C	XP_016865460.1:p.Ile2341Leu
XM_017009972.1:c.139A>C	XP_016865461.1:p.Ile47Leu
XM_017009973.1:c.139A>C	XP_016865462.1:p.Ile47Leu
XM_017009974.2:c.7021A>C	XP_016865463.1:p.Ile2341Leu
NR_003149.2:n.7037A>C