Canonical Allele Identifier: CA360372086

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692776-G-T
• MyVariant Identifiers: chr5:g.89988593G>T (hg19) ; chr5:g.90692776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692776G>T , CM000667.2:g.90692776G>T	GRCh38
NC_000005.9:g.89988593G>T , CM000667.1:g.89988593G>T	GRCh37
NC_000005.8:g.90024349G>T	NCBI36
NG_007083.1:g.138977G>T
NG_007083.2:g.168433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7123G>T MANE Select	ENSP00000384582.2:p.Val2375Phe
ENST00000639431.1:c.265+16567G>T	ENSP00000491057.1:n.265+16567G>T
ENST00000639473.1:n.2582G>T
ENST00000640012.1:c.930G>T
ENST00000640374.1:n.267G>T
ENST00000640403.1:c.4414G>T	ENSP00000492531.1:p.Val1472Phe
ENST00000640779.1:c.1852G>T
ENST00000405460.6:c.7123G>T	ENSP00000384582.2:p.Val2375Phe
NM_032119.3:c.7123G>T	NP_115495.3:p.Val2375Phe
NR_003149.1:n.7136G>T
XM_011543675.1:c.7120G>T	XP_011541977.1:p.Val2374Phe
XM_011543676.1:c.7042G>T	XP_011541978.1:p.Val2348Phe
XM_011543677.1:c.4426G>T	XP_011541979.1:p.Val1476Phe
XM_011543678.1:c.7123G>T	XP_011541980.1:p.Val2375Phe
XM_011543679.1:c.7123G>T	XP_011541981.1:p.Val2375Phe
NM_032119.4:c.7123G>T MANE Select	NP_115495.3:p.Val2375Phe
XM_017009963.2:c.7123G>T	XP_016865452.1:p.Val2375Phe
XM_017009964.2:c.7120G>T	XP_016865453.1:p.Val2374Phe
XM_017009965.1:c.7120G>T	XP_016865454.1:p.Val2374Phe
XM_017009966.2:c.7042G>T	XP_016865455.1:p.Val2348Phe
XM_017009967.1:c.7027G>T	XP_016865456.1:p.Val2343Phe
XM_017009968.2:c.7123G>T	XP_016865457.1:p.Val2375Phe
XM_017009969.2:c.7123G>T	XP_016865458.1:p.Val2375Phe
XM_017009970.2:c.7123G>T	XP_016865459.1:p.Val2375Phe
XM_017009971.2:c.7123G>T	XP_016865460.1:p.Val2375Phe
XM_017009972.1:c.241G>T	XP_016865461.1:p.Val81Phe
XM_017009973.1:c.241G>T	XP_016865462.1:p.Val81Phe
XM_017009974.2:c.7123G>T	XP_016865463.1:p.Val2375Phe
NR_003149.2:n.7139G>T