Canonical Allele Identifier: CA3339462
Community Standard Title: NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90674129A>G , CM000667.2:g.90674129A>G GRCh38
NC_000005.9:g.89969946A>G , CM000667.1:g.89969946A>G GRCh37
NC_000005.8:g.90005702A>G NCBI36
NG_007083.1:g.120330A>G
NG_007083.2:g.149786A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.5005A>G MANE Select NP_115495.3:p.Ile1669Val
ENST00000405460.9:c.5005A>G MANE Select ENSP00000384582.2:p.Ile1669Val
NM_032119.3:c.5005A>G NP_115495.3:p.Ile1669Val
NR_003149.1:n.5101A>G
NR_003149.2:n.5104A>G
ENST00000405460.6:c.5005A>G ENSP00000384582.2:p.Ile1669Val
ENST00000450321.2:n.340A>G
ENST00000639473.1:n.464A>G
ENST00000639676.1:n.2603A>G
ENST00000640403.1:c.2296A>G ENSP00000492531.1:p.Ile766Val
XM_011543675.1:c.5005A>G XP_011541977.1:p.Ile1669Val
XM_011543676.1:c.5005A>G XP_011541978.1:p.Ile1669Val
XM_011543677.1:c.2308A>G XP_011541979.1:p.Ile770Val
XM_011543678.1:c.5005A>G XP_011541980.1:p.Ile1669Val
XM_011543679.1:c.5005A>G XP_011541981.1:p.Ile1669Val
XM_017009963.2:c.5005A>G XP_016865452.1:p.Ile1669Val
XM_017009964.2:c.5005A>G XP_016865453.1:p.Ile1669Val
XM_017009965.1:c.5002A>G XP_016865454.1:p.Ile1668Val
XM_017009966.2:c.5005A>G XP_016865455.1:p.Ile1669Val
XM_017009967.1:c.4909A>G XP_016865456.1:p.Ile1637Val
XM_017009968.2:c.5005A>G XP_016865457.1:p.Ile1669Val
XM_017009969.2:c.5005A>G XP_016865458.1:p.Ile1669Val
XM_017009970.2:c.5005A>G XP_016865459.1:p.Ile1669Val
XM_017009971.2:c.5005A>G XP_016865460.1:p.Ile1669Val
XM_017009974.2:c.5005A>G XP_016865463.1:p.Ile1669Val