Canonical Allele Identifier: CA3340968
Community Standard Title: NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90754995C>T , CM000667.2:g.90754995C>T GRCh38
NC_000005.9:g.90050812C>T , CM000667.1:g.90050812C>T GRCh37
NC_000005.8:g.90086568C>T NCBI36
NG_007083.1:g.201196C>T
NG_007083.2:g.230652C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.11390C>T MANE Select NP_115495.3:p.Thr3797Ile
ENST00000405460.9:c.11390C>T MANE Select ENSP00000384582.2:p.Thr3797Ile
NM_032119.3:c.11390C>T NP_115495.3:p.Thr3797Ile
NR_003149.1:n.11403C>T
NR_003149.2:n.11406C>T
ENST00000405460.6:c.11390C>T ENSP00000384582.2:p.Thr3797Ile
ENST00000425867.3:c.521C>T ENSP00000392618.3:p.Thr174Ile
ENST00000509621.1:c.4087C>T
ENST00000639431.1:c.265+78786C>T ENSP00000491057.1:n.265+78786C>T
ENST00000640374.1:n.4534C>T
ENST00000640464.1:n.1809C>T
XM_011543675.1:c.11387C>T XP_011541977.1:p.Thr3796Ile
XM_011543676.1:c.11309C>T XP_011541978.1:p.Thr3770Ile
XM_011543677.1:c.8693C>T XP_011541979.1:p.Thr2898Ile
XM_011543678.1:c.11390C>T XP_011541980.1:p.Thr3797Ile
XM_017009963.2:c.11411C>T XP_016865452.1:p.Thr3804Ile
XM_017009964.2:c.11408C>T XP_016865453.1:p.Thr3803Ile
XM_017009965.1:c.11408C>T XP_016865454.1:p.Thr3803Ile
XM_017009966.2:c.11330C>T XP_016865455.1:p.Thr3777Ile
XM_017009967.1:c.11315C>T XP_016865456.1:p.Thr3772Ile
XM_017009968.2:c.11411C>T XP_016865457.1:p.Thr3804Ile
XM_017009969.2:c.11411C>T XP_016865458.1:p.Thr3804Ile
XM_017009970.2:c.11411C>T XP_016865459.1:p.Thr3804Ile
XM_017009971.2:c.11411C>T XP_016865460.1:p.Thr3804Ile
XM_017009972.1:c.4529C>T XP_016865461.1:p.Thr1510Ile
XM_017009973.1:c.4508C>T XP_016865462.1:p.Thr1503Ile