Canonical Allele Identifier: CA3340521

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720092T>G , CM000667.2:g.90720092T>G	GRCh38
NC_000005.9:g.90015909T>G , CM000667.1:g.90015909T>G	GRCh37
NC_000005.8:g.90051665T>G	NCBI36
NG_007083.1:g.166293T>G
NG_007083.2:g.195749T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9492T>G MANE Select	NP_115495.3:p.Asp3164Glu
ENST00000405460.9:c.9492T>G MANE Select	ENSP00000384582.2:p.Asp3164Glu
NM_032119.3:c.9492T>G	NP_115495.3:p.Asp3164Glu
NR_003149.1:n.9505T>G
NR_003149.2:n.9508T>G
ENST00000405460.6:c.9492T>G	ENSP00000384582.2:p.Asp3164Glu
ENST00000509621.1:c.2189T>G
ENST00000639431.1:c.265+43883T>G	ENSP00000491057.1:n.265+43883T>G
ENST00000640374.1:n.2636T>G
ENST00000640779.1:c.4221T>G
XM_011543675.1:c.9489T>G	XP_011541977.1:p.Asp3163Glu
XM_011543676.1:c.9411T>G	XP_011541978.1:p.Asp3137Glu
XM_011543677.1:c.6795T>G	XP_011541979.1:p.Asp2265Glu
XM_011543678.1:c.9492T>G	XP_011541980.1:p.Asp3164Glu
XM_011543679.1:c.9492T>G	XP_011541981.1:p.Asp3164Glu
XM_017009963.2:c.9513T>G	XP_016865452.1:p.Asp3171Glu
XM_017009964.2:c.9510T>G	XP_016865453.1:p.Asp3170Glu
XM_017009965.1:c.9510T>G	XP_016865454.1:p.Asp3170Glu
XM_017009966.2:c.9432T>G	XP_016865455.1:p.Asp3144Glu
XM_017009967.1:c.9417T>G	XP_016865456.1:p.Asp3139Glu
XM_017009968.2:c.9513T>G	XP_016865457.1:p.Asp3171Glu
XM_017009969.2:c.9513T>G	XP_016865458.1:p.Asp3171Glu
XM_017009970.2:c.9513T>G	XP_016865459.1:p.Asp3171Glu
XM_017009971.2:c.9513T>G	XP_016865460.1:p.Asp3171Glu
XM_017009972.1:c.2631T>G	XP_016865461.1:p.Asp877Glu
XM_017009973.1:c.2610T>G	XP_016865462.1:p.Asp870Glu
XM_017009974.2:c.9513T>G	XP_016865463.1:p.Asp3171Glu
XR_001742802.1:n.2523-4283A>C
XR_948560.1:n.272-4283A>C