Canonical Allele Identifier: CA122809439
Community Standard Title: NM_032119.4(ADGRV1):c.13450A>G (p.Ile4484Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783854A>G , CM000667.2:g.90783854A>G GRCh38
NC_000005.9:g.90079671A>G , CM000667.1:g.90079671A>G GRCh37
NC_000005.8:g.90115427A>G NCBI36
NG_007083.1:g.230055A>G
NG_007083.2:g.259511A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13450A>G MANE Select NP_115495.3:p.Ile4484Val
ENST00000405460.9:c.13450A>G MANE Select ENSP00000384582.2:p.Ile4484Val
NM_032119.3:c.13450A>G NP_115495.3:p.Ile4484Val
NR_003149.1:n.13463A>G
NR_003149.2:n.13466A>G
ENST00000405460.6:c.13450A>G ENSP00000384582.2:p.Ile4484Val
ENST00000425867.2:c.433A>G ENSP00000392618.2:p.Ile145Val
ENST00000425867.3:c.2404A>G ENSP00000392618.3:p.Ile802Val
ENST00000638510.1:n.717A>G
ENST00000638975.1:c.79A>G ENSP00000492630.1:p.Ile27Val
ENST00000639431.1:c.265+107645A>G ENSP00000491057.1:n.265+107645A>G
XM_011543675.1:c.13447A>G XP_011541977.1:p.Ile4483Val
XM_011543676.1:c.13369A>G XP_011541978.1:p.Ile4457Val
XM_011543677.1:c.10753A>G XP_011541979.1:p.Ile3585Val
XM_011543678.1:c.13450A>G XP_011541980.1:p.Ile4484Val
XM_017009963.2:c.13471A>G XP_016865452.1:p.Ile4491Val
XM_017009964.2:c.13468A>G XP_016865453.1:p.Ile4490Val
XM_017009965.1:c.13468A>G XP_016865454.1:p.Ile4490Val
XM_017009966.2:c.13390A>G XP_016865455.1:p.Ile4464Val
XM_017009967.1:c.13375A>G XP_016865456.1:p.Ile4459Val
XM_017009968.2:c.13471A>G XP_016865457.1:p.Ile4491Val
XM_017009969.2:c.13471A>G XP_016865458.1:p.Ile4491Val
XM_017009970.2:c.13471A>G XP_016865459.1:p.Ile4491Val
XM_017009971.2:c.13471A>G XP_016865460.1:p.Ile4491Val
XM_017009972.1:c.6589A>G XP_016865461.1:p.Ile2197Val
XM_017009973.1:c.6568A>G XP_016865462.1:p.Ile2190Val