Canonical Allele Identifier: CA360397807

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716722-G-T
• MyVariant Identifiers: chr5:g.90012539G>T (hg19) ; chr5:g.90716722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716722G>T , CM000667.2:g.90716722G>T	GRCh38
NC_000005.9:g.90012539G>T , CM000667.1:g.90012539G>T	GRCh37
NC_000005.8:g.90048295G>T	NCBI36
NG_007083.1:g.162923G>T
NG_007083.2:g.192379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9440G>T MANE Select	ENSP00000384582.2:p.Arg3147Leu
ENST00000639431.1:c.265+40513G>T	ENSP00000491057.1:n.265+40513G>T
ENST00000639473.1:n.4899G>T
ENST00000640374.1:n.2584G>T
ENST00000640779.1:c.4169G>T
ENST00000405460.6:c.9440G>T	ENSP00000384582.2:p.Arg3147Leu
ENST00000509621.1:c.2137G>T
NM_032119.3:c.9440G>T	NP_115495.3:p.Arg3147Leu
NR_003149.1:n.9453G>T
XM_011543675.1:c.9437G>T	XP_011541977.1:p.Arg3146Leu
XM_011543676.1:c.9359G>T	XP_011541978.1:p.Arg3120Leu
XM_011543677.1:c.6743G>T	XP_011541979.1:p.Arg2248Leu
XM_011543678.1:c.9440G>T	XP_011541980.1:p.Arg3147Leu
XM_011543679.1:c.9440G>T	XP_011541981.1:p.Arg3147Leu
XR_948560.1:n.272-913C>A
NM_032119.4:c.9440G>T MANE Select	NP_115495.3:p.Arg3147Leu
XM_017009963.2:c.9461G>T	XP_016865452.1:p.Arg3154Leu
XM_017009964.2:c.9458G>T	XP_016865453.1:p.Arg3153Leu
XM_017009965.1:c.9458G>T	XP_016865454.1:p.Arg3153Leu
XM_017009966.2:c.9380G>T	XP_016865455.1:p.Arg3127Leu
XM_017009967.1:c.9365G>T	XP_016865456.1:p.Arg3122Leu
XM_017009968.2:c.9461G>T	XP_016865457.1:p.Arg3154Leu
XM_017009969.2:c.9461G>T	XP_016865458.1:p.Arg3154Leu
XM_017009970.2:c.9461G>T	XP_016865459.1:p.Arg3154Leu
XM_017009971.2:c.9461G>T	XP_016865460.1:p.Arg3154Leu
XM_017009972.1:c.2579G>T	XP_016865461.1:p.Arg860Leu
XM_017009973.1:c.2558G>T	XP_016865462.1:p.Arg853Leu
XM_017009974.2:c.9461G>T	XP_016865463.1:p.Arg3154Leu
XR_001742802.1:n.2523-913C>A
NR_003149.2:n.9456G>T