Canonical Allele Identifier: CA360389920
Community Standard Title: NM_032119.4(ADGRV1):c.13017T>G (p.Asp4339Glu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90779032T>G , CM000667.2:g.90779032T>G GRCh38
NC_000005.9:g.90074849T>G , CM000667.1:g.90074849T>G GRCh37
NC_000005.8:g.90110605T>G NCBI36
NG_007083.1:g.225233T>G
NG_007083.2:g.254689T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13017T>G MANE Select NP_115495.3:p.Asp4339Glu
ENST00000405460.9:c.13017T>G MANE Select ENSP00000384582.2:p.Asp4339Glu
NM_032119.3:c.13017T>G NP_115495.3:p.Asp4339Glu
NR_003149.1:n.13030T>G
NR_003149.2:n.13033T>G
ENST00000405460.6:c.13017T>G ENSP00000384582.2:p.Asp4339Glu
ENST00000425867.3:c.1971T>G ENSP00000392618.3:p.Asp657Glu
ENST00000639431.1:c.265+102823T>G ENSP00000491057.1:n.265+102823T>G
ENST00000640464.1:n.3436T>G
XM_011543675.1:c.13014T>G XP_011541977.1:p.Asp4338Glu
XM_011543676.1:c.12936T>G XP_011541978.1:p.Asp4312Glu
XM_011543677.1:c.10320T>G XP_011541979.1:p.Asp3440Glu
XM_011543678.1:c.13017T>G XP_011541980.1:p.Asp4339Glu
XM_017009963.2:c.13038T>G XP_016865452.1:p.Asp4346Glu
XM_017009964.2:c.13035T>G XP_016865453.1:p.Asp4345Glu
XM_017009965.1:c.13035T>G XP_016865454.1:p.Asp4345Glu
XM_017009966.2:c.12957T>G XP_016865455.1:p.Asp4319Glu
XM_017009967.1:c.12942T>G XP_016865456.1:p.Asp4314Glu
XM_017009968.2:c.13038T>G XP_016865457.1:p.Asp4346Glu
XM_017009969.2:c.13038T>G XP_016865458.1:p.Asp4346Glu
XM_017009970.2:c.13038T>G XP_016865459.1:p.Asp4346Glu
XM_017009971.2:c.13038T>G XP_016865460.1:p.Asp4346Glu
XM_017009972.1:c.6156T>G XP_016865461.1:p.Asp2052Glu
XM_017009973.1:c.6135T>G XP_016865462.1:p.Asp2045Glu