Canonical Allele Identifier: CA3340446
Community Standard Title: NM_032119.4(ADGRV1):c.9120T>G (p.Asp3040Glu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90712364T>G , CM000667.2:g.90712364T>G GRCh38
NC_000005.9:g.90008181T>G , CM000667.1:g.90008181T>G GRCh37
NC_000005.8:g.90043937T>G NCBI36
NG_007083.1:g.158565T>G
NG_007083.2:g.188021T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9120T>G MANE Select NP_115495.3:p.Asp3040Glu
ENST00000405460.9:c.9120T>G MANE Select ENSP00000384582.2:p.Asp3040Glu
NM_032119.3:c.9120T>G NP_115495.3:p.Asp3040Glu
NR_003149.1:n.9133T>G
NR_003149.2:n.9136T>G
ENST00000405460.6:c.9120T>G ENSP00000384582.2:p.Asp3040Glu
ENST00000509621.1:c.1817T>G
ENST00000639431.1:c.265+36155T>G ENSP00000491057.1:n.265+36155T>G
ENST00000639473.1:n.4579T>G
ENST00000640012.1:c.2927T>G
ENST00000640374.1:n.2264T>G
ENST00000640779.1:c.3849T>G
XM_011543675.1:c.9117T>G XP_011541977.1:p.Asp3039Glu
XM_011543676.1:c.9039T>G XP_011541978.1:p.Asp3013Glu
XM_011543677.1:c.6423T>G XP_011541979.1:p.Asp2141Glu
XM_011543678.1:c.9120T>G XP_011541980.1:p.Asp3040Glu
XM_011543679.1:c.9120T>G XP_011541981.1:p.Asp3040Glu
XM_017009963.2:c.9141T>G XP_016865452.1:p.Asp3047Glu
XM_017009964.2:c.9138T>G XP_016865453.1:p.Asp3046Glu
XM_017009965.1:c.9138T>G XP_016865454.1:p.Asp3046Glu
XM_017009966.2:c.9060T>G XP_016865455.1:p.Asp3020Glu
XM_017009967.1:c.9045T>G XP_016865456.1:p.Asp3015Glu
XM_017009968.2:c.9141T>G XP_016865457.1:p.Asp3047Glu
XM_017009969.2:c.9141T>G XP_016865458.1:p.Asp3047Glu
XM_017009970.2:c.9141T>G XP_016865459.1:p.Asp3047Glu
XM_017009971.2:c.9141T>G XP_016865460.1:p.Asp3047Glu
XM_017009972.1:c.2259T>G XP_016865461.1:p.Asp753Glu
XM_017009973.1:c.2238T>G XP_016865462.1:p.Asp746Glu
XM_017009974.2:c.9141T>G XP_016865463.1:p.Asp3047Glu