Canonical Allele Identifier: CA445411834

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2050583
• ClinVar RCV Id: RCV002921982
• MyVariant Identifiers: chr5:g.90008145T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712328T>C , CM000667.2:g.90712328T>C	GRCh38
NC_000005.9:g.90008145T>C , CM000667.1:g.90008145T>C	GRCh37
NC_000005.8:g.90043901T>C	NCBI36
NG_007083.1:g.158529T>C
NG_007083.2:g.187985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9084T>C MANE Select	ENSP00000384582.2:p.Asn3028=
ENST00000639431.1:c.265+36119T>C	ENSP00000491057.1:n.265+36119T>C
ENST00000639473.1:n.4543T>C
ENST00000640012.1:c.2891T>C
ENST00000640374.1:n.2228T>C
ENST00000640779.1:c.3813T>C
ENST00000405460.6:c.9084T>C	ENSP00000384582.2:p.Asn3028=
ENST00000509621.1:c.1781T>C
NM_032119.3:c.9084T>C	NP_115495.3:p.Asn3028=
NR_003149.1:n.9097T>C
XM_011543675.1:c.9081T>C	XP_011541977.1:p.Asn3027=
XM_011543676.1:c.9003T>C	XP_011541978.1:p.Asn3001=
XM_011543677.1:c.6387T>C	XP_011541979.1:p.Asn2129=
XM_011543678.1:c.9084T>C	XP_011541980.1:p.Asn3028=
XM_011543679.1:c.9084T>C	XP_011541981.1:p.Asn3028=
NM_032119.4:c.9084T>C MANE Select	NP_115495.3:p.Asn3028=
XM_017009963.2:c.9105T>C	XP_016865452.1:p.Asn3035=
XM_017009964.2:c.9102T>C	XP_016865453.1:p.Asn3034=
XM_017009965.1:c.9102T>C	XP_016865454.1:p.Asn3034=
XM_017009966.2:c.9024T>C	XP_016865455.1:p.Asn3008=
XM_017009967.1:c.9009T>C	XP_016865456.1:p.Asn3003=
XM_017009968.2:c.9105T>C	XP_016865457.1:p.Asn3035=
XM_017009969.2:c.9105T>C	XP_016865458.1:p.Asn3035=
XM_017009970.2:c.9105T>C	XP_016865459.1:p.Asn3035=
XM_017009971.2:c.9105T>C	XP_016865460.1:p.Asn3035=
XM_017009972.1:c.2223T>C	XP_016865461.1:p.Asn741=
XM_017009973.1:c.2202T>C	XP_016865462.1:p.Asn734=
XM_017009974.2:c.9105T>C	XP_016865463.1:p.Asn3035=
NR_003149.2:n.9100T>C