Canonical Allele Identifier: CA3341865
Community Standard Title: NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810319C>A , CM000667.2:g.90810319C>A GRCh38
NC_000005.9:g.90106136C>A , CM000667.1:g.90106136C>A GRCh37
NC_000005.8:g.90141892C>A NCBI36
NG_007083.1:g.256520C>A
NG_007083.2:g.285976C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15059C>A MANE Select NP_115495.3:p.Thr5020Lys
ENST00000405460.9:c.15059C>A MANE Select ENSP00000384582.2:p.Thr5020Lys
NM_032119.3:c.15059C>A NP_115495.3:p.Thr5020Lys
NR_003149.1:n.15072C>A
NR_003149.2:n.15075C>A
ENST00000405460.6:c.15059C>A ENSP00000384582.2:p.Thr5020Lys
ENST00000425867.2:c.2042C>A ENSP00000392618.2:p.Thr681Lys
ENST00000425867.3:c.4013C>A ENSP00000392618.3:p.Thr1338Lys
ENST00000638510.1:n.2326C>A
ENST00000638585.1:n.514C>A
ENST00000639431.1:c.265+134110C>A ENSP00000491057.1:n.265+134110C>A
ENST00000640407.1:c.1469C>A ENSP00000491425.1:p.Thr490Lys
XM_011543675.1:c.15056C>A XP_011541977.1:p.Thr5019Lys
XM_011543676.1:c.14978C>A XP_011541978.1:p.Thr4993Lys
XM_011543677.1:c.12362C>A XP_011541979.1:p.Thr4121Lys
XM_011543678.1:c.*66C>A XP_011541980.1:n.*66C>A
XM_017009963.2:c.15080C>A XP_016865452.1:p.Thr5027Lys
XM_017009964.2:c.15077C>A XP_016865453.1:p.Thr5026Lys
XM_017009965.1:c.15077C>A XP_016865454.1:p.Thr5026Lys
XM_017009966.2:c.14999C>A XP_016865455.1:p.Thr5000Lys
XM_017009967.1:c.14984C>A XP_016865456.1:p.Thr4995Lys
XM_017009968.2:c.14900C>A XP_016865457.1:p.Thr4967Lys
XM_017009969.2:c.15080C>A XP_016865458.1:p.Thr5027Lys
XM_017009970.2:c.*66C>A XP_016865459.1:n.*66C>A
XM_017009971.2:c.*13C>A XP_016865460.1:n.*13C>A
XM_017009972.1:c.8198C>A XP_016865461.1:p.Thr2733Lys
XM_017009973.1:c.8177C>A XP_016865462.1:p.Thr2726Lys