Canonical Allele Identifier: CA3339787
Community Standard Title: NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90685974G>A , CM000667.2:g.90685974G>A GRCh38
NC_000005.9:g.89981791G>A , CM000667.1:g.89981791G>A GRCh37
NC_000005.8:g.90017547G>A NCBI36
NG_007083.1:g.132175G>A
NG_007083.2:g.161631G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6469G>A MANE Select NP_115495.3:p.Val2157Met
ENST00000405460.9:c.6469G>A MANE Select ENSP00000384582.2:p.Val2157Met
NM_032119.3:c.6469G>A NP_115495.3:p.Val2157Met
NR_003149.1:n.6565G>A
NR_003149.2:n.6568G>A
ENST00000405460.6:c.6469G>A ENSP00000384582.2:p.Val2157Met
ENST00000639431.1:c.265+9765G>A ENSP00000491057.1:n.265+9765G>A
ENST00000639473.1:n.1928G>A
ENST00000640012.1:c.359G>A
ENST00000640403.1:c.3760G>A ENSP00000492531.1:p.Val1254Met
ENST00000640779.1:c.1281G>A
XM_011543675.1:c.6466G>A XP_011541977.1:p.Val2156Met
XM_011543676.1:c.6388G>A XP_011541978.1:p.Val2130Met
XM_011543677.1:c.3772G>A XP_011541979.1:p.Val1258Met
XM_011543678.1:c.6469G>A XP_011541980.1:p.Val2157Met
XM_011543679.1:c.6469G>A XP_011541981.1:p.Val2157Met
XM_017009963.2:c.6469G>A XP_016865452.1:p.Val2157Met
XM_017009964.2:c.6466G>A XP_016865453.1:p.Val2156Met
XM_017009965.1:c.6466G>A XP_016865454.1:p.Val2156Met
XM_017009966.2:c.6388G>A XP_016865455.1:p.Val2130Met
XM_017009967.1:c.6373G>A XP_016865456.1:p.Val2125Met
XM_017009968.2:c.6469G>A XP_016865457.1:p.Val2157Met
XM_017009969.2:c.6469G>A XP_016865458.1:p.Val2157Met
XM_017009970.2:c.6469G>A XP_016865459.1:p.Val2157Met
XM_017009971.2:c.6469G>A XP_016865460.1:p.Val2157Met
XM_017009972.1:c.-331G>A XP_016865461.1:n.-331G>A
XM_017009973.1:c.-331G>A XP_016865462.1:n.-331G>A
XM_017009974.2:c.6469G>A XP_016865463.1:p.Val2157Met