Canonical Allele Identifier: CA360425549

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90823481-T-A
• MyVariant Identifiers: chr5:g.90119298T>A (hg19) ; chr5:g.90823481T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823481T>A , CM000667.2:g.90823481T>A	GRCh38
NC_000005.9:g.90119298T>A , CM000667.1:g.90119298T>A	GRCh37
NC_000005.8:g.90155054T>A	NCBI36
NG_007083.1:g.269682T>A
NG_007083.2:g.299138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16253T>A MANE Select	ENSP00000384582.2:p.Val5418Glu
ENST00000425867.3:c.5207T>A	ENSP00000392618.3:p.Val1736Glu
ENST00000638510.1:n.3520T>A
ENST00000639431.1:c.265+147272T>A	ENSP00000491057.1:n.265+147272T>A
ENST00000640061.1:n.128+1299T>A
ENST00000640407.1:c.2663T>A	ENSP00000491425.1:p.Val888Glu
ENST00000405460.6:c.16253T>A	ENSP00000384582.2:p.Val5418Glu
ENST00000425867.2:c.3236T>A	ENSP00000392618.2:p.Val1079Glu
NM_032119.3:c.16253T>A	NP_115495.3:p.Val5418Glu
NR_003149.1:n.16266T>A
XM_011543675.1:c.16250T>A	XP_011541977.1:p.Val5417Glu
XM_011543676.1:c.16172T>A	XP_011541978.1:p.Val5391Glu
XM_011543677.1:c.13556T>A	XP_011541979.1:p.Val4519Glu
NM_032119.4:c.16253T>A MANE Select	NP_115495.3:p.Val5418Glu
XM_017009963.2:c.16274T>A	XP_016865452.1:p.Val5425Glu
XM_017009964.2:c.16271T>A	XP_016865453.1:p.Val5424Glu
XM_017009965.1:c.16271T>A	XP_016865454.1:p.Val5424Glu
XM_017009966.2:c.16193T>A	XP_016865455.1:p.Val5398Glu
XM_017009967.1:c.16178T>A	XP_016865456.1:p.Val5393Glu
XM_017009968.2:c.16094T>A	XP_016865457.1:p.Val5365Glu
XM_017009969.2:c.16274T>A	XP_016865458.1:p.Val5425Glu
XM_017009972.1:c.9392T>A	XP_016865461.1:p.Val3131Glu
XM_017009973.1:c.9371T>A	XP_016865462.1:p.Val3124Glu
NR_003149.2:n.16269T>A