Canonical Allele Identifier: CA3339292
Community Standard Title: NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653692C>T , CM000667.2:g.90653692C>T GRCh38
NC_000005.9:g.89949509C>T , CM000667.1:g.89949509C>T GRCh37
NC_000005.8:g.89985265C>T NCBI36
NG_007083.1:g.99893C>T
NG_007083.2:g.129349C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4118C>T MANE Select NP_115495.3:p.Ala1373Val
ENST00000405460.9:c.4118C>T MANE Select ENSP00000384582.2:p.Ala1373Val
NM_032119.3:c.4118C>T NP_115495.3:p.Ala1373Val
NR_003149.1:n.4214C>T
NR_003149.2:n.4217C>T
ENST00000405460.6:c.4118C>T ENSP00000384582.2:p.Ala1373Val
ENST00000504142.1:c.2883C>T
ENST00000504142.2:n.2884C>T
ENST00000639676.1:n.1716C>T
ENST00000640403.1:c.1409C>T ENSP00000492531.1:p.Ala470Val
XM_011543675.1:c.4118C>T XP_011541977.1:p.Ala1373Val
XM_011543676.1:c.4118C>T XP_011541978.1:p.Ala1373Val
XM_011543677.1:c.1421C>T XP_011541979.1:p.Ala474Val
XM_011543678.1:c.4118C>T XP_011541980.1:p.Ala1373Val
XM_011543679.1:c.4118C>T XP_011541981.1:p.Ala1373Val
XM_017009963.2:c.4118C>T XP_016865452.1:p.Ala1373Val
XM_017009964.2:c.4118C>T XP_016865453.1:p.Ala1373Val
XM_017009965.1:c.4115C>T XP_016865454.1:p.Ala1372Val
XM_017009966.2:c.4118C>T XP_016865455.1:p.Ala1373Val
XM_017009967.1:c.4022C>T XP_016865456.1:p.Ala1341Val
XM_017009968.2:c.4118C>T XP_016865457.1:p.Ala1373Val
XM_017009969.2:c.4118C>T XP_016865458.1:p.Ala1373Val
XM_017009970.2:c.4118C>T XP_016865459.1:p.Ala1373Val
XM_017009971.2:c.4118C>T XP_016865460.1:p.Ala1373Val
XM_017009974.2:c.4118C>T XP_016865463.1:p.Ala1373Val