Canonical Allele Identifier: CA122800322

Gene: ADGRV1

Linked Data

• dbSNP Id: rs912447251
• gnomAD v2: 5-90058875-C-T
• gnomAD v3: 5-90763058-C-T
• gnomAD v4: 5-90763058-C-T
• MyVariant Identifiers: chr5:g.90058875C>T (hg19) ; chr5:g.90763058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763058C>T , CM000667.2:g.90763058C>T	GRCh38
NC_000005.9:g.90058875C>T , CM000667.1:g.90058875C>T	GRCh37
NC_000005.8:g.90094631C>T	NCBI36
NG_007083.1:g.209259C>T
NG_007083.2:g.238715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12121-247C>T MANE Select	ENSP00000384582.2:n.12121-247C>T
ENST00000425867.3:c.1075-247C>T	ENSP00000392618.3:n.1075-247C>T
ENST00000639431.1:c.265+86849C>T	ENSP00000491057.1:n.265+86849C>T
ENST00000640464.1:n.2540-247C>T
ENST00000640729.1:n.451C>T
ENST00000405460.6:c.12121-247C>T	ENSP00000384582.2:n.12121-247C>T
NM_032119.3:c.12121-247C>T	NP_115495.3:n.12121-247C>T
NR_003149.1:n.12134-247C>T
XM_011543675.1:c.12118-247C>T	XP_011541977.1:n.12118-247C>T
XM_011543676.1:c.12040-247C>T	XP_011541978.1:n.12040-247C>T
XM_011543677.1:c.9424-247C>T	XP_011541979.1:n.9424-247C>T
XM_011543678.1:c.12121-247C>T	XP_011541980.1:n.12121-247C>T
NM_032119.4:c.12121-247C>T MANE Select	NP_115495.3:n.12121-247C>T
XM_017009963.2:c.12142-247C>T	XP_016865452.1:n.12142-247C>T
XM_017009964.2:c.12139-247C>T	XP_016865453.1:n.12139-247C>T
XM_017009965.1:c.12139-247C>T	XP_016865454.1:n.12139-247C>T
XM_017009966.2:c.12061-247C>T	XP_016865455.1:n.12061-247C>T
XM_017009967.1:c.12046-247C>T	XP_016865456.1:n.12046-247C>T
XM_017009968.2:c.12142-247C>T	XP_016865457.1:n.12142-247C>T
XM_017009969.2:c.12142-247C>T	XP_016865458.1:n.12142-247C>T
XM_017009970.2:c.12142-247C>T	XP_016865459.1:n.12142-247C>T
XM_017009971.2:c.12142-247C>T	XP_016865460.1:n.12142-247C>T
XM_017009972.1:c.5260-247C>T	XP_016865461.1:n.5260-247C>T
XM_017009973.1:c.5239-247C>T	XP_016865462.1:n.5239-247C>T
NR_003149.2:n.12137-247C>T