Canonical Allele Identifier: CA360377053

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763310-G-T
• MyVariant Identifiers: chr5:g.90059127G>T (hg19) ; chr5:g.90763310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763310G>T , CM000667.2:g.90763310G>T	GRCh38
NC_000005.9:g.90059127G>T , CM000667.1:g.90059127G>T	GRCh37
NC_000005.8:g.90094883G>T	NCBI36
NG_007083.1:g.209511G>T
NG_007083.2:g.238967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12126G>T MANE Select	ENSP00000384582.2:p.Met4042Ile
ENST00000425867.3:c.1080G>T	ENSP00000392618.3:p.Met360Ile
ENST00000639431.1:c.265+87101G>T	ENSP00000491057.1:n.265+87101G>T
ENST00000640464.1:n.2545G>T
ENST00000640729.1:n.703G>T
ENST00000405460.6:c.12126G>T	ENSP00000384582.2:p.Met4042Ile
NM_032119.3:c.12126G>T	NP_115495.3:p.Met4042Ile
NR_003149.1:n.12139G>T
XM_011543675.1:c.12123G>T	XP_011541977.1:p.Met4041Ile
XM_011543676.1:c.12045G>T	XP_011541978.1:p.Met4015Ile
XM_011543677.1:c.9429G>T	XP_011541979.1:p.Met3143Ile
XM_011543678.1:c.12126G>T	XP_011541980.1:p.Met4042Ile
NM_032119.4:c.12126G>T MANE Select	NP_115495.3:p.Met4042Ile
XM_017009963.2:c.12147G>T	XP_016865452.1:p.Met4049Ile
XM_017009964.2:c.12144G>T	XP_016865453.1:p.Met4048Ile
XM_017009965.1:c.12144G>T	XP_016865454.1:p.Met4048Ile
XM_017009966.2:c.12066G>T	XP_016865455.1:p.Met4022Ile
XM_017009967.1:c.12051G>T	XP_016865456.1:p.Met4017Ile
XM_017009968.2:c.12147G>T	XP_016865457.1:p.Met4049Ile
XM_017009969.2:c.12147G>T	XP_016865458.1:p.Met4049Ile
XM_017009970.2:c.12147G>T	XP_016865459.1:p.Met4049Ile
XM_017009971.2:c.12147G>T	XP_016865460.1:p.Met4049Ile
XM_017009972.1:c.5265G>T	XP_016865461.1:p.Met1755Ile
XM_017009973.1:c.5244G>T	XP_016865462.1:p.Met1748Ile
NR_003149.2:n.12142G>T