Canonical Allele Identifier: CA122799544
Community Standard Title: NM_032119.4(ADGRV1):c.5242G>T (p.Gly1748Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90675374G>T , CM000667.2:g.90675374G>T GRCh38
NC_000005.9:g.89971191G>T , CM000667.1:g.89971191G>T GRCh37
NC_000005.8:g.90006947G>T NCBI36
NG_007083.1:g.121575G>T
NG_007083.2:g.151031G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.5242G>T MANE Select NP_115495.3:p.Gly1748Ter
ENST00000405460.9:c.5242G>T MANE Select ENSP00000384582.2:p.Gly1748Ter
NM_032119.3:c.5242G>T NP_115495.3:p.Gly1748Ter
NR_003149.1:n.5338G>T
NR_003149.2:n.5341G>T
ENST00000405460.6:c.5242G>T ENSP00000384582.2:p.Gly1748Ter
ENST00000450321.2:n.577G>T
ENST00000639431.1:c.64G>T ENSP00000491057.1:p.Gly22Ter
ENST00000639473.1:n.701G>T
ENST00000640403.1:c.2533G>T ENSP00000492531.1:p.Gly845Ter
ENST00000640779.1:c.57G>T
XM_011543675.1:c.5242G>T XP_011541977.1:p.Gly1748Ter
XM_011543676.1:c.5242G>T XP_011541978.1:p.Gly1748Ter
XM_011543677.1:c.2545G>T XP_011541979.1:p.Gly849Ter
XM_011543678.1:c.5242G>T XP_011541980.1:p.Gly1748Ter
XM_011543679.1:c.5242G>T XP_011541981.1:p.Gly1748Ter
XM_017009963.2:c.5242G>T XP_016865452.1:p.Gly1748Ter
XM_017009964.2:c.5242G>T XP_016865453.1:p.Gly1748Ter
XM_017009965.1:c.5239G>T XP_016865454.1:p.Gly1747Ter
XM_017009966.2:c.5242G>T XP_016865455.1:p.Gly1748Ter
XM_017009967.1:c.5146G>T XP_016865456.1:p.Gly1716Ter
XM_017009968.2:c.5242G>T XP_016865457.1:p.Gly1748Ter
XM_017009969.2:c.5242G>T XP_016865458.1:p.Gly1748Ter
XM_017009970.2:c.5242G>T XP_016865459.1:p.Gly1748Ter
XM_017009971.2:c.5242G>T XP_016865460.1:p.Gly1748Ter
XM_017009973.1:c.-1555G>T XP_016865462.1:n.-1555G>T
XM_017009974.2:c.5242G>T XP_016865463.1:p.Gly1748Ter