Canonical Allele Identifier: CA360377039

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059126T>A (hg19) ; chr5:g.90763309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763309T>A , CM000667.2:g.90763309T>A	GRCh38
NC_000005.9:g.90059126T>A , CM000667.1:g.90059126T>A	GRCh37
NC_000005.8:g.90094882T>A	NCBI36
NG_007083.1:g.209510T>A
NG_007083.2:g.238966T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12125T>A MANE Select	ENSP00000384582.2:p.Met4042Lys
ENST00000425867.3:c.1079T>A	ENSP00000392618.3:p.Met360Lys
ENST00000639431.1:c.265+87100T>A	ENSP00000491057.1:n.265+87100T>A
ENST00000640464.1:n.2544T>A
ENST00000640729.1:n.702T>A
ENST00000405460.6:c.12125T>A	ENSP00000384582.2:p.Met4042Lys
NM_032119.3:c.12125T>A	NP_115495.3:p.Met4042Lys
NR_003149.1:n.12138T>A
XM_011543675.1:c.12122T>A	XP_011541977.1:p.Met4041Lys
XM_011543676.1:c.12044T>A	XP_011541978.1:p.Met4015Lys
XM_011543677.1:c.9428T>A	XP_011541979.1:p.Met3143Lys
XM_011543678.1:c.12125T>A	XP_011541980.1:p.Met4042Lys
NM_032119.4:c.12125T>A MANE Select	NP_115495.3:p.Met4042Lys
XM_017009963.2:c.12146T>A	XP_016865452.1:p.Met4049Lys
XM_017009964.2:c.12143T>A	XP_016865453.1:p.Met4048Lys
XM_017009965.1:c.12143T>A	XP_016865454.1:p.Met4048Lys
XM_017009966.2:c.12065T>A	XP_016865455.1:p.Met4022Lys
XM_017009967.1:c.12050T>A	XP_016865456.1:p.Met4017Lys
XM_017009968.2:c.12146T>A	XP_016865457.1:p.Met4049Lys
XM_017009969.2:c.12146T>A	XP_016865458.1:p.Met4049Lys
XM_017009970.2:c.12146T>A	XP_016865459.1:p.Met4049Lys
XM_017009971.2:c.12146T>A	XP_016865460.1:p.Met4049Lys
XM_017009972.1:c.5264T>A	XP_016865461.1:p.Met1755Lys
XM_017009973.1:c.5243T>A	XP_016865462.1:p.Met1748Lys
NR_003149.2:n.12141T>A