Canonical Allele Identifier: CA3340142
Community Standard Title: NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90696995C>T , CM000667.2:g.90696995C>T GRCh38
NC_000005.9:g.89992812C>T , CM000667.1:g.89992812C>T GRCh37
NC_000005.8:g.90028568C>T NCBI36
NG_007083.1:g.143196C>T
NG_007083.2:g.172652C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8004C>T MANE Select NP_115495.3:p.Asp2668=
ENST00000405460.9:c.8004C>T MANE Select ENSP00000384582.2:p.Asp2668=
NM_032119.3:c.8004C>T NP_115495.3:p.Asp2668=
NR_003149.1:n.8017C>T
NR_003149.2:n.8020C>T
ENST00000405460.6:c.8004C>T ENSP00000384582.2:p.Asp2668=
ENST00000509621.1:c.701C>T
ENST00000639431.1:c.265+20786C>T ENSP00000491057.1:n.265+20786C>T
ENST00000639473.1:n.3463C>T
ENST00000640012.1:c.1811C>T
ENST00000640374.1:n.1148C>T
ENST00000640403.1:c.5295C>T ENSP00000492531.1:p.Asp1765=
ENST00000640779.1:c.2733C>T
XM_011543675.1:c.8001C>T XP_011541977.1:p.Asp2667=
XM_011543676.1:c.7923C>T XP_011541978.1:p.Asp2641=
XM_011543677.1:c.5307C>T XP_011541979.1:p.Asp1769=
XM_011543678.1:c.8004C>T XP_011541980.1:p.Asp2668=
XM_011543679.1:c.8004C>T XP_011541981.1:p.Asp2668=
XM_017009963.2:c.8004C>T XP_016865452.1:p.Asp2668=
XM_017009964.2:c.8001C>T XP_016865453.1:p.Asp2667=
XM_017009965.1:c.8001C>T XP_016865454.1:p.Asp2667=
XM_017009966.2:c.7923C>T XP_016865455.1:p.Asp2641=
XM_017009967.1:c.7908C>T XP_016865456.1:p.Asp2636=
XM_017009968.2:c.8004C>T XP_016865457.1:p.Asp2668=
XM_017009969.2:c.8004C>T XP_016865458.1:p.Asp2668=
XM_017009970.2:c.8004C>T XP_016865459.1:p.Asp2668=
XM_017009971.2:c.8004C>T XP_016865460.1:p.Asp2668=
XM_017009972.1:c.1122C>T XP_016865461.1:p.Asp374=
XM_017009973.1:c.1122C>T XP_016865462.1:p.Asp374=
XM_017009974.2:c.8004C>T XP_016865463.1:p.Asp2668=