Canonical Allele Identifier: CA360371365

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692696-C-T
• MyVariant Identifiers: chr5:g.89988513C>T (hg19) ; chr5:g.90692696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692696C>T , CM000667.2:g.90692696C>T	GRCh38
NC_000005.9:g.89988513C>T , CM000667.1:g.89988513C>T	GRCh37
NC_000005.8:g.90024269C>T	NCBI36
NG_007083.1:g.138897C>T
NG_007083.2:g.168353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7043C>T MANE Select	ENSP00000384582.2:p.Pro2348Leu
ENST00000639431.1:c.265+16487C>T	ENSP00000491057.1:n.265+16487C>T
ENST00000639473.1:n.2502C>T
ENST00000640012.1:c.850C>T
ENST00000640374.1:n.187C>T
ENST00000640403.1:c.4334C>T	ENSP00000492531.1:p.Pro1445Leu
ENST00000640779.1:c.1772C>T
ENST00000405460.6:c.7043C>T	ENSP00000384582.2:p.Pro2348Leu
NM_032119.3:c.7043C>T	NP_115495.3:p.Pro2348Leu
NR_003149.1:n.7056C>T
XM_011543675.1:c.7040C>T	XP_011541977.1:p.Pro2347Leu
XM_011543676.1:c.6962C>T	XP_011541978.1:p.Pro2321Leu
XM_011543677.1:c.4346C>T	XP_011541979.1:p.Pro1449Leu
XM_011543678.1:c.7043C>T	XP_011541980.1:p.Pro2348Leu
XM_011543679.1:c.7043C>T	XP_011541981.1:p.Pro2348Leu
NM_032119.4:c.7043C>T MANE Select	NP_115495.3:p.Pro2348Leu
XM_017009963.2:c.7043C>T	XP_016865452.1:p.Pro2348Leu
XM_017009964.2:c.7040C>T	XP_016865453.1:p.Pro2347Leu
XM_017009965.1:c.7040C>T	XP_016865454.1:p.Pro2347Leu
XM_017009966.2:c.6962C>T	XP_016865455.1:p.Pro2321Leu
XM_017009967.1:c.6947C>T	XP_016865456.1:p.Pro2316Leu
XM_017009968.2:c.7043C>T	XP_016865457.1:p.Pro2348Leu
XM_017009969.2:c.7043C>T	XP_016865458.1:p.Pro2348Leu
XM_017009970.2:c.7043C>T	XP_016865459.1:p.Pro2348Leu
XM_017009971.2:c.7043C>T	XP_016865460.1:p.Pro2348Leu
XM_017009972.1:c.161C>T	XP_016865461.1:p.Pro54Leu
XM_017009973.1:c.161C>T	XP_016865462.1:p.Pro54Leu
XM_017009974.2:c.7043C>T	XP_016865463.1:p.Pro2348Leu
NR_003149.2:n.7059C>T