Canonical Allele Identifier: CA360377006

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763306-T-G
• MyVariant Identifiers: chr5:g.90059123T>G (hg19) ; chr5:g.90763306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763306T>G , CM000667.2:g.90763306T>G	GRCh38
NC_000005.9:g.90059123T>G , CM000667.1:g.90059123T>G	GRCh37
NC_000005.8:g.90094879T>G	NCBI36
NG_007083.1:g.209507T>G
NG_007083.2:g.238963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12122T>G MANE Select	ENSP00000384582.2:p.Val4041Gly
ENST00000425867.3:c.1076T>G	ENSP00000392618.3:p.Val359Gly
ENST00000639431.1:c.265+87097T>G	ENSP00000491057.1:n.265+87097T>G
ENST00000640464.1:n.2541T>G
ENST00000640729.1:n.699T>G
ENST00000405460.6:c.12122T>G	ENSP00000384582.2:p.Val4041Gly
NM_032119.3:c.12122T>G	NP_115495.3:p.Val4041Gly
NR_003149.1:n.12135T>G
XM_011543675.1:c.12119T>G	XP_011541977.1:p.Val4040Gly
XM_011543676.1:c.12041T>G	XP_011541978.1:p.Val4014Gly
XM_011543677.1:c.9425T>G	XP_011541979.1:p.Val3142Gly
XM_011543678.1:c.12122T>G	XP_011541980.1:p.Val4041Gly
NM_032119.4:c.12122T>G MANE Select	NP_115495.3:p.Val4041Gly
XM_017009963.2:c.12143T>G	XP_016865452.1:p.Val4048Gly
XM_017009964.2:c.12140T>G	XP_016865453.1:p.Val4047Gly
XM_017009965.1:c.12140T>G	XP_016865454.1:p.Val4047Gly
XM_017009966.2:c.12062T>G	XP_016865455.1:p.Val4021Gly
XM_017009967.1:c.12047T>G	XP_016865456.1:p.Val4016Gly
XM_017009968.2:c.12143T>G	XP_016865457.1:p.Val4048Gly
XM_017009969.2:c.12143T>G	XP_016865458.1:p.Val4048Gly
XM_017009970.2:c.12143T>G	XP_016865459.1:p.Val4048Gly
XM_017009971.2:c.12143T>G	XP_016865460.1:p.Val4048Gly
XM_017009972.1:c.5261T>G	XP_016865461.1:p.Val1754Gly
XM_017009973.1:c.5240T>G	XP_016865462.1:p.Val1747Gly
NR_003149.2:n.12138T>G