Canonical Allele Identifier: CA3341682
Community Standard Title: NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791014G>A , CM000667.2:g.90791014G>A GRCh38
NC_000005.9:g.90086831G>A , CM000667.1:g.90086831G>A GRCh37
NC_000005.8:g.90122587G>A NCBI36
NG_007083.1:g.237215G>A
NG_007083.2:g.266671G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14185G>A MANE Select NP_115495.3:p.Asp4729Asn
ENST00000405460.9:c.14185G>A MANE Select ENSP00000384582.2:p.Asp4729Asn
NM_032119.3:c.14185G>A NP_115495.3:p.Asp4729Asn
NR_003149.1:n.14198G>A
NR_003149.2:n.14201G>A
ENST00000405460.6:c.14185G>A ENSP00000384582.2:p.Asp4729Asn
ENST00000425867.2:c.1168G>A ENSP00000392618.2:p.Asp390Asn
ENST00000425867.3:c.3139G>A ENSP00000392618.3:p.Asp1047Asn
ENST00000638510.1:n.1452G>A
ENST00000638975.1:c.814G>A ENSP00000492630.1:p.Asp272Asn
ENST00000639431.1:c.265+114805G>A ENSP00000491057.1:n.265+114805G>A
ENST00000640407.1:c.595G>A ENSP00000491425.1:p.Asp199Asn
XM_011543675.1:c.14182G>A XP_011541977.1:p.Asp4728Asn
XM_011543676.1:c.14104G>A XP_011541978.1:p.Asp4702Asn
XM_011543677.1:c.11488G>A XP_011541979.1:p.Asp3830Asn
XM_011543678.1:c.14185G>A XP_011541980.1:p.Asp4729Asn
XM_017009963.2:c.14206G>A XP_016865452.1:p.Asp4736Asn
XM_017009964.2:c.14203G>A XP_016865453.1:p.Asp4735Asn
XM_017009965.1:c.14203G>A XP_016865454.1:p.Asp4735Asn
XM_017009966.2:c.14125G>A XP_016865455.1:p.Asp4709Asn
XM_017009967.1:c.14110G>A XP_016865456.1:p.Asp4704Asn
XM_017009968.2:c.14206G>A XP_016865457.1:p.Asp4736Asn
XM_017009969.2:c.14206G>A XP_016865458.1:p.Asp4736Asn
XM_017009970.2:c.14206G>A XP_016865459.1:p.Asp4736Asn
XM_017009971.2:c.14206G>A XP_016865460.1:p.Asp4736Asn
XM_017009972.1:c.7324G>A XP_016865461.1:p.Asp2442Asn
XM_017009973.1:c.7303G>A XP_016865462.1:p.Asp2435Asn