Canonical Allele Identifier: CA360367147

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050958A>C (hg19) ; chr5:g.90755141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755141A>C , CM000667.2:g.90755141A>C	GRCh38
NC_000005.9:g.90050958A>C , CM000667.1:g.90050958A>C	GRCh37
NC_000005.8:g.90086714A>C	NCBI36
NG_007083.1:g.201342A>C
NG_007083.2:g.230798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11536A>C MANE Select	ENSP00000384582.2:p.Lys3846Gln
ENST00000425867.3:c.667A>C	ENSP00000392618.3:p.Lys223Gln
ENST00000639431.1:c.265+78932A>C	ENSP00000491057.1:n.265+78932A>C
ENST00000640374.1:n.4680A>C
ENST00000640464.1:n.1955A>C
ENST00000405460.6:c.11536A>C	ENSP00000384582.2:p.Lys3846Gln
ENST00000509621.1:c.4233A>C
NM_032119.3:c.11536A>C	NP_115495.3:p.Lys3846Gln
NR_003149.1:n.11549A>C
XM_011543675.1:c.11533A>C	XP_011541977.1:p.Lys3845Gln
XM_011543676.1:c.11455A>C	XP_011541978.1:p.Lys3819Gln
XM_011543677.1:c.8839A>C	XP_011541979.1:p.Lys2947Gln
XM_011543678.1:c.11536A>C	XP_011541980.1:p.Lys3846Gln
NM_032119.4:c.11536A>C MANE Select	NP_115495.3:p.Lys3846Gln
XM_017009963.2:c.11557A>C	XP_016865452.1:p.Lys3853Gln
XM_017009964.2:c.11554A>C	XP_016865453.1:p.Lys3852Gln
XM_017009965.1:c.11554A>C	XP_016865454.1:p.Lys3852Gln
XM_017009966.2:c.11476A>C	XP_016865455.1:p.Lys3826Gln
XM_017009967.1:c.11461A>C	XP_016865456.1:p.Lys3821Gln
XM_017009968.2:c.11557A>C	XP_016865457.1:p.Lys3853Gln
XM_017009969.2:c.11557A>C	XP_016865458.1:p.Lys3853Gln
XM_017009970.2:c.11557A>C	XP_016865459.1:p.Lys3853Gln
XM_017009971.2:c.11557A>C	XP_016865460.1:p.Lys3853Gln
XM_017009972.1:c.4675A>C	XP_016865461.1:p.Lys1559Gln
XM_017009973.1:c.4654A>C	XP_016865462.1:p.Lys1552Gln
NR_003149.2:n.11552A>C