Canonical Allele Identifier: CA360408790

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745596-G-T
• MyVariant Identifiers: chr5:g.90041413G>T (hg19) ; chr5:g.90745596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745596G>T , CM000667.2:g.90745596G>T	GRCh38
NC_000005.9:g.90041413G>T , CM000667.1:g.90041413G>T	GRCh37
NC_000005.8:g.90077169G>T	NCBI36
NG_007083.1:g.191797G>T
NG_007083.2:g.221253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10775G>T MANE Select	ENSP00000384582.2:p.Gly3592Val
ENST00000639431.1:c.265+69387G>T	ENSP00000491057.1:n.265+69387G>T
ENST00000640374.1:n.3919G>T
ENST00000640464.1:n.1194G>T
ENST00000405460.6:c.10775G>T	ENSP00000384582.2:p.Gly3592Val
ENST00000509621.1:c.3472G>T
NM_032119.3:c.10775G>T	NP_115495.3:p.Gly3592Val
NR_003149.1:n.10788G>T
XM_011543675.1:c.10772G>T	XP_011541977.1:p.Gly3591Val
XM_011543676.1:c.10694G>T	XP_011541978.1:p.Gly3565Val
XM_011543677.1:c.8078G>T	XP_011541979.1:p.Gly2693Val
XM_011543678.1:c.10775G>T	XP_011541980.1:p.Gly3592Val
XM_011543679.1:c.10770G>T	XP_011541981.1:p.Arg3590Ser
NM_032119.4:c.10775G>T MANE Select	NP_115495.3:p.Gly3592Val
XM_017009963.2:c.10796G>T	XP_016865452.1:p.Gly3599Val
XM_017009964.2:c.10793G>T	XP_016865453.1:p.Gly3598Val
XM_017009965.1:c.10793G>T	XP_016865454.1:p.Gly3598Val
XM_017009966.2:c.10715G>T	XP_016865455.1:p.Gly3572Val
XM_017009967.1:c.10700G>T	XP_016865456.1:p.Gly3567Val
XM_017009968.2:c.10796G>T	XP_016865457.1:p.Gly3599Val
XM_017009969.2:c.10796G>T	XP_016865458.1:p.Gly3599Val
XM_017009970.2:c.10796G>T	XP_016865459.1:p.Gly3599Val
XM_017009971.2:c.10796G>T	XP_016865460.1:p.Gly3599Val
XM_017009972.1:c.3914G>T	XP_016865461.1:p.Gly1305Val
XM_017009973.1:c.3893G>T	XP_016865462.1:p.Gly1298Val
XM_017009974.2:c.10791G>T	XP_016865463.1:p.Arg3597Ser
NR_003149.2:n.10791G>T