Canonical Allele Identifier: CA360367052

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050938A>C (hg19) ; chr5:g.90755121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755121A>C , CM000667.2:g.90755121A>C	GRCh38
NC_000005.9:g.90050938A>C , CM000667.1:g.90050938A>C	GRCh37
NC_000005.8:g.90086694A>C	NCBI36
NG_007083.1:g.201322A>C
NG_007083.2:g.230778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11516A>C MANE Select	ENSP00000384582.2:p.Gln3839Pro
ENST00000425867.3:c.647A>C	ENSP00000392618.3:p.Gln216Pro
ENST00000639431.1:c.265+78912A>C	ENSP00000491057.1:n.265+78912A>C
ENST00000640374.1:n.4660A>C
ENST00000640464.1:n.1935A>C
ENST00000405460.6:c.11516A>C	ENSP00000384582.2:p.Gln3839Pro
ENST00000509621.1:c.4213A>C
NM_032119.3:c.11516A>C	NP_115495.3:p.Gln3839Pro
NR_003149.1:n.11529A>C
XM_011543675.1:c.11513A>C	XP_011541977.1:p.Gln3838Pro
XM_011543676.1:c.11435A>C	XP_011541978.1:p.Gln3812Pro
XM_011543677.1:c.8819A>C	XP_011541979.1:p.Gln2940Pro
XM_011543678.1:c.11516A>C	XP_011541980.1:p.Gln3839Pro
NM_032119.4:c.11516A>C MANE Select	NP_115495.3:p.Gln3839Pro
XM_017009963.2:c.11537A>C	XP_016865452.1:p.Gln3846Pro
XM_017009964.2:c.11534A>C	XP_016865453.1:p.Gln3845Pro
XM_017009965.1:c.11534A>C	XP_016865454.1:p.Gln3845Pro
XM_017009966.2:c.11456A>C	XP_016865455.1:p.Gln3819Pro
XM_017009967.1:c.11441A>C	XP_016865456.1:p.Gln3814Pro
XM_017009968.2:c.11537A>C	XP_016865457.1:p.Gln3846Pro
XM_017009969.2:c.11537A>C	XP_016865458.1:p.Gln3846Pro
XM_017009970.2:c.11537A>C	XP_016865459.1:p.Gln3846Pro
XM_017009971.2:c.11537A>C	XP_016865460.1:p.Gln3846Pro
XM_017009972.1:c.4655A>C	XP_016865461.1:p.Gln1552Pro
XM_017009973.1:c.4634A>C	XP_016865462.1:p.Gln1545Pro
NR_003149.2:n.11532A>C