Canonical Allele Identifier: CA3341968
Community Standard Title: NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810979C>T , CM000667.2:g.90810979C>T GRCh38
NC_000005.9:g.90106796C>T , CM000667.1:g.90106796C>T GRCh37
NC_000005.8:g.90142552C>T NCBI36
NG_007083.1:g.257180C>T
NG_007083.2:g.286636C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15719C>T MANE Select NP_115495.3:p.Thr5240Ile
ENST00000405460.9:c.15719C>T MANE Select ENSP00000384582.2:p.Thr5240Ile
NM_032119.3:c.15719C>T NP_115495.3:p.Thr5240Ile
NR_003149.1:n.15732C>T
NR_003149.2:n.15735C>T
ENST00000405460.6:c.15719C>T ENSP00000384582.2:p.Thr5240Ile
ENST00000425867.2:c.2702C>T ENSP00000392618.2:p.Thr901Ile
ENST00000425867.3:c.4673C>T ENSP00000392618.3:p.Thr1558Ile
ENST00000638510.1:n.2986C>T
ENST00000639431.1:c.265+134770C>T ENSP00000491057.1:n.265+134770C>T
ENST00000640407.1:c.2129C>T ENSP00000491425.1:p.Thr710Ile
XM_011543675.1:c.15716C>T XP_011541977.1:p.Thr5239Ile
XM_011543676.1:c.15638C>T XP_011541978.1:p.Thr5213Ile
XM_011543677.1:c.13022C>T XP_011541979.1:p.Thr4341Ile
XM_017009963.2:c.15740C>T XP_016865452.1:p.Thr5247Ile
XM_017009964.2:c.15737C>T XP_016865453.1:p.Thr5246Ile
XM_017009965.1:c.15737C>T XP_016865454.1:p.Thr5246Ile
XM_017009966.2:c.15659C>T XP_016865455.1:p.Thr5220Ile
XM_017009967.1:c.15644C>T XP_016865456.1:p.Thr5215Ile
XM_017009968.2:c.15560C>T XP_016865457.1:p.Thr5187Ile
XM_017009969.2:c.15740C>T XP_016865458.1:p.Thr5247Ile
XM_017009972.1:c.8858C>T XP_016865461.1:p.Thr2953Ile
XM_017009973.1:c.8837C>T XP_016865462.1:p.Thr2946Ile