Canonical Allele Identifier: CA122811225
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90790948G>A , CM000667.2:g.90790948G>A GRCh38
NC_000005.9:g.90086765G>A , CM000667.1:g.90086765G>A GRCh37
NC_000005.8:g.90122521G>A NCBI36
NG_007083.1:g.237149G>A
NG_007083.2:g.266605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.14119G>A MANE Select ENSP00000384582.2:p.Asp4707Asn
ENST00000425867.3:c.3073G>A ENSP00000392618.3:p.Asp1025Asn
ENST00000638510.1:n.1386G>A
ENST00000638975.1:c.748G>A ENSP00000492630.1:p.Asp250Asn
ENST00000639431.1:c.265+114739G>A ENSP00000491057.1:n.265+114739G>A
ENST00000640407.1:c.529G>A ENSP00000491425.1:p.Asp177Asn
ENST00000405460.6:c.14119G>A ENSP00000384582.2:p.Asp4707Asn
ENST00000425867.2:c.1102G>A ENSP00000392618.2:p.Asp368Asn
NM_032119.3:c.14119G>A NP_115495.3:p.Asp4707Asn
NR_003149.1:n.14132G>A
XM_011543675.1:c.14116G>A XP_011541977.1:p.Asp4706Asn
XM_011543676.1:c.14038G>A XP_011541978.1:p.Asp4680Asn
XM_011543677.1:c.11422G>A XP_011541979.1:p.Asp3808Asn
XM_011543678.1:c.14119G>A XP_011541980.1:p.Asp4707Asn
NM_032119.4:c.14119G>A MANE Select NP_115495.3:p.Asp4707Asn
XM_017009963.2:c.14140G>A XP_016865452.1:p.Asp4714Asn
XM_017009964.2:c.14137G>A XP_016865453.1:p.Asp4713Asn
XM_017009965.1:c.14137G>A XP_016865454.1:p.Asp4713Asn
XM_017009966.2:c.14059G>A XP_016865455.1:p.Asp4687Asn
XM_017009967.1:c.14044G>A XP_016865456.1:p.Asp4682Asn
XM_017009968.2:c.14140G>A XP_016865457.1:p.Asp4714Asn
XM_017009969.2:c.14140G>A XP_016865458.1:p.Asp4714Asn
XM_017009970.2:c.14140G>A XP_016865459.1:p.Asp4714Asn
XM_017009971.2:c.14140G>A XP_016865460.1:p.Asp4714Asn
XM_017009972.1:c.7258G>A XP_016865461.1:p.Asp2420Asn
XM_017009973.1:c.7237G>A XP_016865462.1:p.Asp2413Asn
NR_003149.2:n.14135G>A