Canonical Allele Identifier: CA3339726
Community Standard Title: NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90684149C>T , CM000667.2:g.90684149C>T GRCh38
NC_000005.9:g.89979966C>T , CM000667.1:g.89979966C>T GRCh37
NC_000005.8:g.90015722C>T NCBI36
NG_007083.1:g.130350C>T
NG_007083.2:g.159806C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6228C>T MANE Select NP_115495.3:p.Ile2076=
ENST00000405460.9:c.6228C>T MANE Select ENSP00000384582.2:p.Ile2076=
NM_032119.3:c.6228C>T NP_115495.3:p.Ile2076=
NR_003149.1:n.6324C>T
NR_003149.2:n.6327C>T
ENST00000405460.6:c.6228C>T ENSP00000384582.2:p.Ile2076=
ENST00000639431.1:c.265+7940C>T ENSP00000491057.1:n.265+7940C>T
ENST00000639473.1:n.1687C>T
ENST00000640012.1:c.165-1631C>T
ENST00000640403.1:c.3519C>T ENSP00000492531.1:p.Ile1173=
ENST00000640779.1:c.1040C>T
XM_011543675.1:c.6225C>T XP_011541977.1:p.Ile2075=
XM_011543676.1:c.6147C>T XP_011541978.1:p.Ile2049=
XM_011543677.1:c.3531C>T XP_011541979.1:p.Ile1177=
XM_011543678.1:c.6228C>T XP_011541980.1:p.Ile2076=
XM_011543679.1:c.6228C>T XP_011541981.1:p.Ile2076=
XM_017009963.2:c.6228C>T XP_016865452.1:p.Ile2076=
XM_017009964.2:c.6225C>T XP_016865453.1:p.Ile2075=
XM_017009965.1:c.6225C>T XP_016865454.1:p.Ile2075=
XM_017009966.2:c.6147C>T XP_016865455.1:p.Ile2049=
XM_017009967.1:c.6132C>T XP_016865456.1:p.Ile2044=
XM_017009968.2:c.6228C>T XP_016865457.1:p.Ile2076=
XM_017009969.2:c.6228C>T XP_016865458.1:p.Ile2076=
XM_017009970.2:c.6228C>T XP_016865459.1:p.Ile2076=
XM_017009971.2:c.6228C>T XP_016865460.1:p.Ile2076=
XM_017009973.1:c.-572C>T XP_016865462.1:n.-572C>T
XM_017009974.2:c.6228C>T XP_016865463.1:p.Ile2076=