Canonical Allele Identifier: CA360406338

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90805411T>G , CM000667.2:g.90805411T>G	GRCh38
NC_000005.9:g.90101228T>G , CM000667.1:g.90101228T>G	GRCh37
NC_000005.8:g.90136984T>G	NCBI36
NG_007083.1:g.251612T>G
NG_007083.2:g.281068T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.14789T>G MANE Select	NP_115495.3:p.Leu4930Ter
ENST00000405460.9:c.14789T>G MANE Select	ENSP00000384582.2:p.Leu4930Ter
NM_032119.3:c.14789T>G	NP_115495.3:p.Leu4930Ter
NR_003149.1:n.14802T>G
NR_003149.2:n.14805T>G
ENST00000405460.6:c.14789T>G	ENSP00000384582.2:p.Leu4930Ter
ENST00000425867.2:c.1772T>G	ENSP00000392618.2:p.Leu591Ter
ENST00000425867.3:c.3743T>G	ENSP00000392618.3:p.Leu1248Ter
ENST00000513828.1:n.485T>G
ENST00000638510.1:n.2056T>G
ENST00000638585.1:n.427+2529T>G
ENST00000639431.1:c.265+129202T>G	ENSP00000491057.1:n.265+129202T>G
ENST00000640407.1:c.1199T>G	ENSP00000491425.1:p.Leu400Ter
XM_011543675.1:c.14786T>G	XP_011541977.1:p.Leu4929Ter
XM_011543676.1:c.14708T>G	XP_011541978.1:p.Leu4903Ter
XM_011543677.1:c.12092T>G	XP_011541979.1:p.Leu4031Ter
XM_011543678.1:c.14789T>G	XP_011541980.1:p.Leu4930Ter
XM_017009963.2:c.14810T>G	XP_016865452.1:p.Leu4937Ter
XM_017009964.2:c.14807T>G	XP_016865453.1:p.Leu4936Ter
XM_017009965.1:c.14807T>G	XP_016865454.1:p.Leu4936Ter
XM_017009966.2:c.14729T>G	XP_016865455.1:p.Leu4910Ter
XM_017009967.1:c.14714T>G	XP_016865456.1:p.Leu4905Ter
XM_017009968.2:c.14683-2191T>G	XP_016865457.1:n.14683-2191T>G
XM_017009969.2:c.14810T>G	XP_016865458.1:p.Leu4937Ter
XM_017009970.2:c.14810T>G	XP_016865459.1:p.Leu4937Ter
XM_017009971.2:c.14683-2191T>G	XP_016865460.1:n.14683-2191T>G
XM_017009972.1:c.7928T>G	XP_016865461.1:p.Leu2643Ter
XM_017009973.1:c.7907T>G	XP_016865462.1:p.Leu2636Ter