Canonical Allele Identifier: CA445406439

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2879123
• ClinVar RCV Id: RCV003710520
• MyVariant Identifiers: chr5:g.90059169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763352G>A , CM000667.2:g.90763352G>A	GRCh38
NC_000005.9:g.90059169G>A , CM000667.1:g.90059169G>A	GRCh37
NC_000005.8:g.90094925G>A	NCBI36
NG_007083.1:g.209553G>A
NG_007083.2:g.239009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12168G>A MANE Select	ENSP00000384582.2:p.Val4056=
ENST00000425867.3:c.1122G>A	ENSP00000392618.3:p.Val374=
ENST00000639431.1:c.265+87143G>A	ENSP00000491057.1:n.265+87143G>A
ENST00000640464.1:n.2587G>A
ENST00000640729.1:n.745G>A
ENST00000405460.6:c.12168G>A	ENSP00000384582.2:p.Val4056=
NM_032119.3:c.12168G>A	NP_115495.3:p.Val4056=
NR_003149.1:n.12181G>A
XM_011543675.1:c.12165G>A	XP_011541977.1:p.Val4055=
XM_011543676.1:c.12087G>A	XP_011541978.1:p.Val4029=
XM_011543677.1:c.9471G>A	XP_011541979.1:p.Val3157=
XM_011543678.1:c.12168G>A	XP_011541980.1:p.Val4056=
NM_032119.4:c.12168G>A MANE Select	NP_115495.3:p.Val4056=
XM_017009963.2:c.12189G>A	XP_016865452.1:p.Val4063=
XM_017009964.2:c.12186G>A	XP_016865453.1:p.Val4062=
XM_017009965.1:c.12186G>A	XP_016865454.1:p.Val4062=
XM_017009966.2:c.12108G>A	XP_016865455.1:p.Val4036=
XM_017009967.1:c.12093G>A	XP_016865456.1:p.Val4031=
XM_017009968.2:c.12189G>A	XP_016865457.1:p.Val4063=
XM_017009969.2:c.12189G>A	XP_016865458.1:p.Val4063=
XM_017009970.2:c.12189G>A	XP_016865459.1:p.Val4063=
XM_017009971.2:c.12189G>A	XP_016865460.1:p.Val4063=
XM_017009972.1:c.5307G>A	XP_016865461.1:p.Val1769=
XM_017009973.1:c.5286G>A	XP_016865462.1:p.Val1762=
NR_003149.2:n.12184G>A