Canonical Allele Identifier: CA360399390
Community Standard Title: NM_032119.4(ADGRV1):c.9473A>T (p.Asp3158Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90720073A>T , CM000667.2:g.90720073A>T GRCh38
NC_000005.9:g.90015890A>T , CM000667.1:g.90015890A>T GRCh37
NC_000005.8:g.90051646A>T NCBI36
NG_007083.1:g.166274A>T
NG_007083.2:g.195730A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9473A>T MANE Select NP_115495.3:p.Asp3158Val
ENST00000405460.9:c.9473A>T MANE Select ENSP00000384582.2:p.Asp3158Val
NM_032119.3:c.9473A>T NP_115495.3:p.Asp3158Val
NR_003149.1:n.9486A>T
NR_003149.2:n.9489A>T
ENST00000405460.6:c.9473A>T ENSP00000384582.2:p.Asp3158Val
ENST00000509621.1:c.2170A>T
ENST00000639431.1:c.265+43864A>T ENSP00000491057.1:n.265+43864A>T
ENST00000640374.1:n.2617A>T
ENST00000640779.1:c.4202A>T
XM_011543675.1:c.9470A>T XP_011541977.1:p.Asp3157Val
XM_011543676.1:c.9392A>T XP_011541978.1:p.Asp3131Val
XM_011543677.1:c.6776A>T XP_011541979.1:p.Asp2259Val
XM_011543678.1:c.9473A>T XP_011541980.1:p.Asp3158Val
XM_011543679.1:c.9473A>T XP_011541981.1:p.Asp3158Val
XM_017009963.2:c.9494A>T XP_016865452.1:p.Asp3165Val
XM_017009964.2:c.9491A>T XP_016865453.1:p.Asp3164Val
XM_017009965.1:c.9491A>T XP_016865454.1:p.Asp3164Val
XM_017009966.2:c.9413A>T XP_016865455.1:p.Asp3138Val
XM_017009967.1:c.9398A>T XP_016865456.1:p.Asp3133Val
XM_017009968.2:c.9494A>T XP_016865457.1:p.Asp3165Val
XM_017009969.2:c.9494A>T XP_016865458.1:p.Asp3165Val
XM_017009970.2:c.9494A>T XP_016865459.1:p.Asp3165Val
XM_017009971.2:c.9494A>T XP_016865460.1:p.Asp3165Val
XM_017009972.1:c.2612A>T XP_016865461.1:p.Asp871Val
XM_017009973.1:c.2591A>T XP_016865462.1:p.Asp864Val
XM_017009974.2:c.9494A>T XP_016865463.1:p.Asp3165Val
XR_001742802.1:n.2523-4264T>A
XR_948560.1:n.272-4264T>A