Canonical Allele Identifier: CA3339711
Community Standard Title: NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90684040A>G , CM000667.2:g.90684040A>G GRCh38
NC_000005.9:g.89979857A>G , CM000667.1:g.89979857A>G GRCh37
NC_000005.8:g.90015613A>G NCBI36
NG_007083.1:g.130241A>G
NG_007083.2:g.159697A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6119A>G MANE Select NP_115495.3:p.Tyr2040Cys
ENST00000405460.9:c.6119A>G MANE Select ENSP00000384582.2:p.Tyr2040Cys
NM_032119.3:c.6119A>G NP_115495.3:p.Tyr2040Cys
NR_003149.1:n.6215A>G
NR_003149.2:n.6218A>G
ENST00000405460.6:c.6119A>G ENSP00000384582.2:p.Tyr2040Cys
ENST00000639431.1:c.265+7831A>G ENSP00000491057.1:n.265+7831A>G
ENST00000639473.1:n.1578A>G
ENST00000640012.1:c.165-1740A>G
ENST00000640403.1:c.3410A>G ENSP00000492531.1:p.Tyr1137Cys
ENST00000640779.1:c.931A>G
XM_011543675.1:c.6116A>G XP_011541977.1:p.Tyr2039Cys
XM_011543676.1:c.6038A>G XP_011541978.1:p.Tyr2013Cys
XM_011543677.1:c.3422A>G XP_011541979.1:p.Tyr1141Cys
XM_011543678.1:c.6119A>G XP_011541980.1:p.Tyr2040Cys
XM_011543679.1:c.6119A>G XP_011541981.1:p.Tyr2040Cys
XM_017009963.2:c.6119A>G XP_016865452.1:p.Tyr2040Cys
XM_017009964.2:c.6116A>G XP_016865453.1:p.Tyr2039Cys
XM_017009965.1:c.6116A>G XP_016865454.1:p.Tyr2039Cys
XM_017009966.2:c.6038A>G XP_016865455.1:p.Tyr2013Cys
XM_017009967.1:c.6023A>G XP_016865456.1:p.Tyr2008Cys
XM_017009968.2:c.6119A>G XP_016865457.1:p.Tyr2040Cys
XM_017009969.2:c.6119A>G XP_016865458.1:p.Tyr2040Cys
XM_017009970.2:c.6119A>G XP_016865459.1:p.Tyr2040Cys
XM_017009971.2:c.6119A>G XP_016865460.1:p.Tyr2040Cys
XM_017009973.1:c.-681A>G XP_016865462.1:n.-681A>G
XM_017009974.2:c.6119A>G XP_016865463.1:p.Tyr2040Cys