Canonical Allele Identifier: CA3339837
Community Standard Title: NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90689969C>G , CM000667.2:g.90689969C>G GRCh38
NC_000005.9:g.89985786C>G , CM000667.1:g.89985786C>G GRCh37
NC_000005.8:g.90021542C>G NCBI36
NG_007083.1:g.136170C>G
NG_007083.2:g.165626C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6599C>G MANE Select NP_115495.3:p.Ser2200Cys
ENST00000405460.9:c.6599C>G MANE Select ENSP00000384582.2:p.Ser2200Cys
NM_032119.3:c.6599C>G NP_115495.3:p.Ser2200Cys
NR_003149.1:n.6695C>G
NR_003149.2:n.6698C>G
ENST00000405460.6:c.6599C>G ENSP00000384582.2:p.Ser2200Cys
ENST00000639431.1:c.265+13760C>G ENSP00000491057.1:n.265+13760C>G
ENST00000639473.1:n.2058C>G
ENST00000640012.1:c.489C>G
ENST00000640403.1:c.3890C>G ENSP00000492531.1:p.Ser1297Cys
ENST00000640779.1:c.1411C>G
XM_011543675.1:c.6596C>G XP_011541977.1:p.Ser2199Cys
XM_011543676.1:c.6518C>G XP_011541978.1:p.Ser2173Cys
XM_011543677.1:c.3902C>G XP_011541979.1:p.Ser1301Cys
XM_011543678.1:c.6599C>G XP_011541980.1:p.Ser2200Cys
XM_011543679.1:c.6599C>G XP_011541981.1:p.Ser2200Cys
XM_017009963.2:c.6599C>G XP_016865452.1:p.Ser2200Cys
XM_017009964.2:c.6596C>G XP_016865453.1:p.Ser2199Cys
XM_017009965.1:c.6596C>G XP_016865454.1:p.Ser2199Cys
XM_017009966.2:c.6518C>G XP_016865455.1:p.Ser2173Cys
XM_017009967.1:c.6503C>G XP_016865456.1:p.Ser2168Cys
XM_017009968.2:c.6599C>G XP_016865457.1:p.Ser2200Cys
XM_017009969.2:c.6599C>G XP_016865458.1:p.Ser2200Cys
XM_017009970.2:c.6599C>G XP_016865459.1:p.Ser2200Cys
XM_017009971.2:c.6599C>G XP_016865460.1:p.Ser2200Cys
XM_017009972.1:c.-201C>G XP_016865461.1:n.-201C>G
XM_017009973.1:c.-201C>G XP_016865462.1:n.-201C>G
XM_017009974.2:c.6599C>G XP_016865463.1:p.Ser2200Cys