Canonical Allele Identifier: CA176237
Community Standard Title: NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788131A>T , CM000667.2:g.90788131A>T GRCh38
NC_000005.9:g.90083948A>T , CM000667.1:g.90083948A>T GRCh37
NC_000005.8:g.90119704A>T NCBI36
NG_007083.1:g.234332A>T
NG_007083.2:g.263788A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13714A>T MANE Select NP_115495.3:p.Ile4572Phe
ENST00000405460.9:c.13714A>T MANE Select ENSP00000384582.2:p.Ile4572Phe
NM_032119.3:c.13714A>T NP_115495.3:p.Ile4572Phe
NR_003149.1:n.13727A>T
NR_003149.2:n.13730A>T
ENST00000405460.6:c.13714A>T ENSP00000384582.2:p.Ile4572Phe
ENST00000425867.2:c.697A>T ENSP00000392618.2:p.Ile233Phe
ENST00000425867.3:c.2668A>T ENSP00000392618.3:p.Ile890Phe
ENST00000638510.1:n.981A>T
ENST00000638975.1:c.343A>T ENSP00000492630.1:p.Ile115Phe
ENST00000639431.1:c.265+111922A>T ENSP00000491057.1:n.265+111922A>T
ENST00000640407.1:c.124A>T ENSP00000491425.1:p.Ile42Phe
XM_011543675.1:c.13711A>T XP_011541977.1:p.Ile4571Phe
XM_011543676.1:c.13633A>T XP_011541978.1:p.Ile4545Phe
XM_011543677.1:c.11017A>T XP_011541979.1:p.Ile3673Phe
XM_011543678.1:c.13714A>T XP_011541980.1:p.Ile4572Phe
XM_017009963.2:c.13735A>T XP_016865452.1:p.Ile4579Phe
XM_017009964.2:c.13732A>T XP_016865453.1:p.Ile4578Phe
XM_017009965.1:c.13732A>T XP_016865454.1:p.Ile4578Phe
XM_017009966.2:c.13654A>T XP_016865455.1:p.Ile4552Phe
XM_017009967.1:c.13639A>T XP_016865456.1:p.Ile4547Phe
XM_017009968.2:c.13735A>T XP_016865457.1:p.Ile4579Phe
XM_017009969.2:c.13735A>T XP_016865458.1:p.Ile4579Phe
XM_017009970.2:c.13735A>T XP_016865459.1:p.Ile4579Phe
XM_017009971.2:c.13735A>T XP_016865460.1:p.Ile4579Phe
XM_017009972.1:c.6853A>T XP_016865461.1:p.Ile2285Phe
XM_017009973.1:c.6832A>T XP_016865462.1:p.Ile2278Phe