Canonical Allele Identifier: CA3339871
Community Standard Title: NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90690862A>G , CM000667.2:g.90690862A>G GRCh38
NC_000005.9:g.89986679A>G , CM000667.1:g.89986679A>G GRCh37
NC_000005.8:g.90022435A>G NCBI36
NG_007083.1:g.137063A>G
NG_007083.2:g.166519A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6772A>G MANE Select NP_115495.3:p.Ile2258Val
ENST00000405460.9:c.6772A>G MANE Select ENSP00000384582.2:p.Ile2258Val
NM_032119.3:c.6772A>G NP_115495.3:p.Ile2258Val
NR_003149.1:n.6868A>G
NR_003149.2:n.6871A>G
ENST00000405460.6:c.6772A>G ENSP00000384582.2:p.Ile2258Val
ENST00000639431.1:c.265+14653A>G ENSP00000491057.1:n.265+14653A>G
ENST00000639473.1:n.2231A>G
ENST00000640012.1:c.662A>G
ENST00000640403.1:c.4063A>G ENSP00000492531.1:p.Ile1355Val
ENST00000640779.1:c.1584A>G
XM_011543675.1:c.6769A>G XP_011541977.1:p.Ile2257Val
XM_011543676.1:c.6691A>G XP_011541978.1:p.Ile2231Val
XM_011543677.1:c.4075A>G XP_011541979.1:p.Ile1359Val
XM_011543678.1:c.6772A>G XP_011541980.1:p.Ile2258Val
XM_011543679.1:c.6772A>G XP_011541981.1:p.Ile2258Val
XM_017009963.2:c.6772A>G XP_016865452.1:p.Ile2258Val
XM_017009964.2:c.6769A>G XP_016865453.1:p.Ile2257Val
XM_017009965.1:c.6769A>G XP_016865454.1:p.Ile2257Val
XM_017009966.2:c.6691A>G XP_016865455.1:p.Ile2231Val
XM_017009967.1:c.6676A>G XP_016865456.1:p.Ile2226Val
XM_017009968.2:c.6772A>G XP_016865457.1:p.Ile2258Val
XM_017009969.2:c.6772A>G XP_016865458.1:p.Ile2258Val
XM_017009970.2:c.6772A>G XP_016865459.1:p.Ile2258Val
XM_017009971.2:c.6772A>G XP_016865460.1:p.Ile2258Val
XM_017009972.1:c.-28A>G XP_016865461.1:n.-28A>G
XM_017009973.1:c.-28A>G XP_016865462.1:n.-28A>G
XM_017009974.2:c.6772A>G XP_016865463.1:p.Ile2258Val