Canonical Allele Identifier: CA445406531

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2734559
• ClinVar RCV Id: RCV003555097
• MyVariant Identifiers: chr5:g.90059184C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763367C>T , CM000667.2:g.90763367C>T	GRCh38
NC_000005.9:g.90059184C>T , CM000667.1:g.90059184C>T	GRCh37
NC_000005.8:g.90094940C>T	NCBI36
NG_007083.1:g.209568C>T
NG_007083.2:g.239024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12183C>T MANE Select	ENSP00000384582.2:p.Val4061=
ENST00000425867.3:c.1137C>T	ENSP00000392618.3:p.Val379=
ENST00000639431.1:c.265+87158C>T	ENSP00000491057.1:n.265+87158C>T
ENST00000640464.1:n.2602C>T
ENST00000640729.1:n.760C>T
ENST00000405460.6:c.12183C>T	ENSP00000384582.2:p.Val4061=
NM_032119.3:c.12183C>T	NP_115495.3:p.Val4061=
NR_003149.1:n.12196C>T
XM_011543675.1:c.12180C>T	XP_011541977.1:p.Val4060=
XM_011543676.1:c.12102C>T	XP_011541978.1:p.Val4034=
XM_011543677.1:c.9486C>T	XP_011541979.1:p.Val3162=
XM_011543678.1:c.12183C>T	XP_011541980.1:p.Val4061=
NM_032119.4:c.12183C>T MANE Select	NP_115495.3:p.Val4061=
XM_017009963.2:c.12204C>T	XP_016865452.1:p.Val4068=
XM_017009964.2:c.12201C>T	XP_016865453.1:p.Val4067=
XM_017009965.1:c.12201C>T	XP_016865454.1:p.Val4067=
XM_017009966.2:c.12123C>T	XP_016865455.1:p.Val4041=
XM_017009967.1:c.12108C>T	XP_016865456.1:p.Val4036=
XM_017009968.2:c.12204C>T	XP_016865457.1:p.Val4068=
XM_017009969.2:c.12204C>T	XP_016865458.1:p.Val4068=
XM_017009970.2:c.12204C>T	XP_016865459.1:p.Val4068=
XM_017009971.2:c.12204C>T	XP_016865460.1:p.Val4068=
XM_017009972.1:c.5322C>T	XP_016865461.1:p.Val1774=
XM_017009973.1:c.5301C>T	XP_016865462.1:p.Val1767=
NR_003149.2:n.12199C>T