Canonical Allele Identifier: CA3339789
Community Standard Title: NM_032119.4(ADGRV1):c.6473C>T (p.Pro2158Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90685978C>T , CM000667.2:g.90685978C>T GRCh38
NC_000005.9:g.89981795C>T , CM000667.1:g.89981795C>T GRCh37
NC_000005.8:g.90017551C>T NCBI36
NG_007083.1:g.132179C>T
NG_007083.2:g.161635C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6473C>T MANE Select NP_115495.3:p.Pro2158Leu
ENST00000405460.9:c.6473C>T MANE Select ENSP00000384582.2:p.Pro2158Leu
NM_032119.3:c.6473C>T NP_115495.3:p.Pro2158Leu
NR_003149.1:n.6569C>T
NR_003149.2:n.6572C>T
ENST00000405460.6:c.6473C>T ENSP00000384582.2:p.Pro2158Leu
ENST00000639431.1:c.265+9769C>T ENSP00000491057.1:n.265+9769C>T
ENST00000639473.1:n.1932C>T
ENST00000640012.1:c.363C>T
ENST00000640403.1:c.3764C>T ENSP00000492531.1:p.Pro1255Leu
ENST00000640779.1:c.1285C>T
XM_011543675.1:c.6470C>T XP_011541977.1:p.Pro2157Leu
XM_011543676.1:c.6392C>T XP_011541978.1:p.Pro2131Leu
XM_011543677.1:c.3776C>T XP_011541979.1:p.Pro1259Leu
XM_011543678.1:c.6473C>T XP_011541980.1:p.Pro2158Leu
XM_011543679.1:c.6473C>T XP_011541981.1:p.Pro2158Leu
XM_017009963.2:c.6473C>T XP_016865452.1:p.Pro2158Leu
XM_017009964.2:c.6470C>T XP_016865453.1:p.Pro2157Leu
XM_017009965.1:c.6470C>T XP_016865454.1:p.Pro2157Leu
XM_017009966.2:c.6392C>T XP_016865455.1:p.Pro2131Leu
XM_017009967.1:c.6377C>T XP_016865456.1:p.Pro2126Leu
XM_017009968.2:c.6473C>T XP_016865457.1:p.Pro2158Leu
XM_017009969.2:c.6473C>T XP_016865458.1:p.Pro2158Leu
XM_017009970.2:c.6473C>T XP_016865459.1:p.Pro2158Leu
XM_017009971.2:c.6473C>T XP_016865460.1:p.Pro2158Leu
XM_017009972.1:c.-327C>T XP_016865461.1:n.-327C>T
XM_017009973.1:c.-327C>T XP_016865462.1:n.-327C>T
XM_017009974.2:c.6473C>T XP_016865463.1:p.Pro2158Leu