Canonical Allele Identifier: CA360399420
Community Standard Title: NM_032119.4(ADGRV1):c.9479A>C (p.Glu3160Ala)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90720079A>C , CM000667.2:g.90720079A>C GRCh38
NC_000005.9:g.90015896A>C , CM000667.1:g.90015896A>C GRCh37
NC_000005.8:g.90051652A>C NCBI36
NG_007083.1:g.166280A>C
NG_007083.2:g.195736A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9479A>C MANE Select NP_115495.3:p.Glu3160Ala
ENST00000405460.9:c.9479A>C MANE Select ENSP00000384582.2:p.Glu3160Ala
NM_032119.3:c.9479A>C NP_115495.3:p.Glu3160Ala
NR_003149.1:n.9492A>C
NR_003149.2:n.9495A>C
ENST00000405460.6:c.9479A>C ENSP00000384582.2:p.Glu3160Ala
ENST00000509621.1:c.2176A>C
ENST00000639431.1:c.265+43870A>C ENSP00000491057.1:n.265+43870A>C
ENST00000640374.1:n.2623A>C
ENST00000640779.1:c.4208A>C
XM_011543675.1:c.9476A>C XP_011541977.1:p.Glu3159Ala
XM_011543676.1:c.9398A>C XP_011541978.1:p.Glu3133Ala
XM_011543677.1:c.6782A>C XP_011541979.1:p.Glu2261Ala
XM_011543678.1:c.9479A>C XP_011541980.1:p.Glu3160Ala
XM_011543679.1:c.9479A>C XP_011541981.1:p.Glu3160Ala
XM_017009963.2:c.9500A>C XP_016865452.1:p.Glu3167Ala
XM_017009964.2:c.9497A>C XP_016865453.1:p.Glu3166Ala
XM_017009965.1:c.9497A>C XP_016865454.1:p.Glu3166Ala
XM_017009966.2:c.9419A>C XP_016865455.1:p.Glu3140Ala
XM_017009967.1:c.9404A>C XP_016865456.1:p.Glu3135Ala
XM_017009968.2:c.9500A>C XP_016865457.1:p.Glu3167Ala
XM_017009969.2:c.9500A>C XP_016865458.1:p.Glu3167Ala
XM_017009970.2:c.9500A>C XP_016865459.1:p.Glu3167Ala
XM_017009971.2:c.9500A>C XP_016865460.1:p.Glu3167Ala
XM_017009972.1:c.2618A>C XP_016865461.1:p.Glu873Ala
XM_017009973.1:c.2597A>C XP_016865462.1:p.Glu866Ala
XM_017009974.2:c.9500A>C XP_016865463.1:p.Glu3167Ala
XR_001742802.1:n.2523-4270T>G
XR_948560.1:n.272-4270T>G