Canonical Allele Identifier: CA3339368
Community Standard Title: NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90658076G>T , CM000667.2:g.90658076G>T GRCh38
NC_000005.9:g.89953893G>T , CM000667.1:g.89953893G>T GRCh37
NC_000005.8:g.89989649G>T NCBI36
NG_007083.1:g.104277G>T
NG_007083.2:g.133733G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4550G>T MANE Select NP_115495.3:p.Arg1517Ile
ENST00000405460.9:c.4550G>T MANE Select ENSP00000384582.2:p.Arg1517Ile
NM_032119.3:c.4550G>T NP_115495.3:p.Arg1517Ile
NR_003149.1:n.4646G>T
NR_003149.2:n.4649G>T
ENST00000405460.6:c.4550G>T ENSP00000384582.2:p.Arg1517Ile
ENST00000639473.1:n.9G>T
ENST00000639676.1:n.2148G>T
ENST00000640403.1:c.1841G>T ENSP00000492531.1:p.Arg614Ile
XM_011543675.1:c.4550G>T XP_011541977.1:p.Arg1517Ile
XM_011543676.1:c.4550G>T XP_011541978.1:p.Arg1517Ile
XM_011543677.1:c.1853G>T XP_011541979.1:p.Arg618Ile
XM_011543678.1:c.4550G>T XP_011541980.1:p.Arg1517Ile
XM_011543679.1:c.4550G>T XP_011541981.1:p.Arg1517Ile
XM_017009963.2:c.4550G>T XP_016865452.1:p.Arg1517Ile
XM_017009964.2:c.4550G>T XP_016865453.1:p.Arg1517Ile
XM_017009965.1:c.4547G>T XP_016865454.1:p.Arg1516Ile
XM_017009966.2:c.4550G>T XP_016865455.1:p.Arg1517Ile
XM_017009967.1:c.4454G>T XP_016865456.1:p.Arg1485Ile
XM_017009968.2:c.4550G>T XP_016865457.1:p.Arg1517Ile
XM_017009969.2:c.4550G>T XP_016865458.1:p.Arg1517Ile
XM_017009970.2:c.4550G>T XP_016865459.1:p.Arg1517Ile
XM_017009971.2:c.4550G>T XP_016865460.1:p.Arg1517Ile
XM_017009974.2:c.4550G>T XP_016865463.1:p.Arg1517Ile