Canonical Allele Identifier: CA360366920

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050920A>C (hg19) ; chr5:g.90755103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755103A>C , CM000667.2:g.90755103A>C	GRCh38
NC_000005.9:g.90050920A>C , CM000667.1:g.90050920A>C	GRCh37
NC_000005.8:g.90086676A>C	NCBI36
NG_007083.1:g.201304A>C
NG_007083.2:g.230760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11498A>C MANE Select	ENSP00000384582.2:p.Asn3833Thr
ENST00000425867.3:c.629A>C	ENSP00000392618.3:p.Asn210Thr
ENST00000639431.1:c.265+78894A>C	ENSP00000491057.1:n.265+78894A>C
ENST00000640374.1:n.4642A>C
ENST00000640464.1:n.1917A>C
ENST00000405460.6:c.11498A>C	ENSP00000384582.2:p.Asn3833Thr
ENST00000509621.1:c.4195A>C
NM_032119.3:c.11498A>C	NP_115495.3:p.Asn3833Thr
NR_003149.1:n.11511A>C
XM_011543675.1:c.11495A>C	XP_011541977.1:p.Asn3832Thr
XM_011543676.1:c.11417A>C	XP_011541978.1:p.Asn3806Thr
XM_011543677.1:c.8801A>C	XP_011541979.1:p.Asn2934Thr
XM_011543678.1:c.11498A>C	XP_011541980.1:p.Asn3833Thr
NM_032119.4:c.11498A>C MANE Select	NP_115495.3:p.Asn3833Thr
XM_017009963.2:c.11519A>C	XP_016865452.1:p.Asn3840Thr
XM_017009964.2:c.11516A>C	XP_016865453.1:p.Asn3839Thr
XM_017009965.1:c.11516A>C	XP_016865454.1:p.Asn3839Thr
XM_017009966.2:c.11438A>C	XP_016865455.1:p.Asn3813Thr
XM_017009967.1:c.11423A>C	XP_016865456.1:p.Asn3808Thr
XM_017009968.2:c.11519A>C	XP_016865457.1:p.Asn3840Thr
XM_017009969.2:c.11519A>C	XP_016865458.1:p.Asn3840Thr
XM_017009970.2:c.11519A>C	XP_016865459.1:p.Asn3840Thr
XM_017009971.2:c.11519A>C	XP_016865460.1:p.Asn3840Thr
XM_017009972.1:c.4637A>C	XP_016865461.1:p.Asn1546Thr
XM_017009973.1:c.4616A>C	XP_016865462.1:p.Asn1539Thr
NR_003149.2:n.11514A>C