Canonical Allele Identifier: CA360405296

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90729672G>A , CM000667.2:g.90729672G>A	GRCh38
NC_000005.9:g.90025489G>A , CM000667.1:g.90025489G>A	GRCh37
NC_000005.8:g.90061245G>A	NCBI36
NG_007083.1:g.175873G>A
NG_007083.2:g.205329G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10457G>A MANE Select	NP_115495.3:p.Trp3486Ter
ENST00000405460.9:c.10457G>A MANE Select	ENSP00000384582.2:p.Trp3486Ter
NM_032119.3:c.10457G>A	NP_115495.3:p.Trp3486Ter
NR_003149.1:n.10470G>A
NR_003149.2:n.10473G>A
ENST00000405460.6:c.10457G>A	ENSP00000384582.2:p.Trp3486Ter
ENST00000509621.1:c.3154G>A
ENST00000639431.1:c.265+53463G>A	ENSP00000491057.1:n.265+53463G>A
ENST00000640374.1:n.3601G>A
ENST00000640464.1:n.876G>A
XM_011543675.1:c.10454G>A	XP_011541977.1:p.Trp3485Ter
XM_011543676.1:c.10376G>A	XP_011541978.1:p.Trp3459Ter
XM_011543677.1:c.7760G>A	XP_011541979.1:p.Trp2587Ter
XM_011543678.1:c.10457G>A	XP_011541980.1:p.Trp3486Ter
XM_011543679.1:c.10457G>A	XP_011541981.1:p.Trp3486Ter
XM_017009963.2:c.10478G>A	XP_016865452.1:p.Trp3493Ter
XM_017009964.2:c.10475G>A	XP_016865453.1:p.Trp3492Ter
XM_017009965.1:c.10475G>A	XP_016865454.1:p.Trp3492Ter
XM_017009966.2:c.10397G>A	XP_016865455.1:p.Trp3466Ter
XM_017009967.1:c.10382G>A	XP_016865456.1:p.Trp3461Ter
XM_017009968.2:c.10478G>A	XP_016865457.1:p.Trp3493Ter
XM_017009969.2:c.10478G>A	XP_016865458.1:p.Trp3493Ter
XM_017009970.2:c.10478G>A	XP_016865459.1:p.Trp3493Ter
XM_017009971.2:c.10478G>A	XP_016865460.1:p.Trp3493Ter
XM_017009972.1:c.3596G>A	XP_016865461.1:p.Trp1199Ter
XM_017009973.1:c.3575G>A	XP_016865462.1:p.Trp1192Ter
XM_017009974.2:c.10478G>A	XP_016865463.1:p.Trp3493Ter
XR_001742802.1:n.2522+11235C>T
XR_948560.1:n.271+11235C>T