Canonical Allele Identifier: CA3341609
Community Standard Title: NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788189C>T , CM000667.2:g.90788189C>T GRCh38
NC_000005.9:g.90084006C>T , CM000667.1:g.90084006C>T GRCh37
NC_000005.8:g.90119762C>T NCBI36
NG_007083.1:g.234390C>T
NG_007083.2:g.263846C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13772C>T MANE Select NP_115495.3:p.Thr4591Ile
ENST00000405460.9:c.13772C>T MANE Select ENSP00000384582.2:p.Thr4591Ile
NM_032119.3:c.13772C>T NP_115495.3:p.Thr4591Ile
NR_003149.1:n.13785C>T
NR_003149.2:n.13788C>T
ENST00000405460.6:c.13772C>T ENSP00000384582.2:p.Thr4591Ile
ENST00000425867.2:c.755C>T ENSP00000392618.2:p.Thr252Ile
ENST00000425867.3:c.2726C>T ENSP00000392618.3:p.Thr909Ile
ENST00000638510.1:n.1039C>T
ENST00000638975.1:c.401C>T ENSP00000492630.1:p.Thr134Ile
ENST00000639431.1:c.265+111980C>T ENSP00000491057.1:n.265+111980C>T
ENST00000640407.1:c.182C>T ENSP00000491425.1:p.Thr61Ile
XM_011543675.1:c.13769C>T XP_011541977.1:p.Thr4590Ile
XM_011543676.1:c.13691C>T XP_011541978.1:p.Thr4564Ile
XM_011543677.1:c.11075C>T XP_011541979.1:p.Thr3692Ile
XM_011543678.1:c.13772C>T XP_011541980.1:p.Thr4591Ile
XM_017009963.2:c.13793C>T XP_016865452.1:p.Thr4598Ile
XM_017009964.2:c.13790C>T XP_016865453.1:p.Thr4597Ile
XM_017009965.1:c.13790C>T XP_016865454.1:p.Thr4597Ile
XM_017009966.2:c.13712C>T XP_016865455.1:p.Thr4571Ile
XM_017009967.1:c.13697C>T XP_016865456.1:p.Thr4566Ile
XM_017009968.2:c.13793C>T XP_016865457.1:p.Thr4598Ile
XM_017009969.2:c.13793C>T XP_016865458.1:p.Thr4598Ile
XM_017009970.2:c.13793C>T XP_016865459.1:p.Thr4598Ile
XM_017009971.2:c.13793C>T XP_016865460.1:p.Thr4598Ile
XM_017009972.1:c.6911C>T XP_016865461.1:p.Thr2304Ile
XM_017009973.1:c.6890C>T XP_016865462.1:p.Thr2297Ile