Canonical Allele Identifier: CA3339987
Community Standard Title: NM_032119.4(ADGRV1):c.7155G>T (p.Leu2385=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90693911G>T , CM000667.2:g.90693911G>T GRCh38
NC_000005.9:g.89989728G>T , CM000667.1:g.89989728G>T GRCh37
NC_000005.8:g.90025484G>T NCBI36
NG_007083.1:g.140112G>T
NG_007083.2:g.169568G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.7155G>T MANE Select NP_115495.3:p.Leu2385=
ENST00000405460.9:c.7155G>T MANE Select ENSP00000384582.2:p.Leu2385=
NM_032119.3:c.7155G>T NP_115495.3:p.Leu2385=
NR_003149.1:n.7168G>T
NR_003149.2:n.7171G>T
ENST00000405460.6:c.7155G>T ENSP00000384582.2:p.Leu2385=
ENST00000639431.1:c.265+17702G>T ENSP00000491057.1:n.265+17702G>T
ENST00000639473.1:n.2614G>T
ENST00000640012.1:c.962G>T
ENST00000640374.1:n.299G>T
ENST00000640403.1:c.4446G>T ENSP00000492531.1:p.Leu1482=
ENST00000640779.1:c.1884G>T
XM_011543675.1:c.7152G>T XP_011541977.1:p.Leu2384=
XM_011543676.1:c.7074G>T XP_011541978.1:p.Leu2358=
XM_011543677.1:c.4458G>T XP_011541979.1:p.Leu1486=
XM_011543678.1:c.7155G>T XP_011541980.1:p.Leu2385=
XM_011543679.1:c.7155G>T XP_011541981.1:p.Leu2385=
XM_017009963.2:c.7155G>T XP_016865452.1:p.Leu2385=
XM_017009964.2:c.7152G>T XP_016865453.1:p.Leu2384=
XM_017009965.1:c.7152G>T XP_016865454.1:p.Leu2384=
XM_017009966.2:c.7074G>T XP_016865455.1:p.Leu2358=
XM_017009967.1:c.7059G>T XP_016865456.1:p.Leu2353=
XM_017009968.2:c.7155G>T XP_016865457.1:p.Leu2385=
XM_017009969.2:c.7155G>T XP_016865458.1:p.Leu2385=
XM_017009970.2:c.7155G>T XP_016865459.1:p.Leu2385=
XM_017009971.2:c.7155G>T XP_016865460.1:p.Leu2385=
XM_017009972.1:c.273G>T XP_016865461.1:p.Leu91=
XM_017009973.1:c.273G>T XP_016865462.1:p.Leu91=
XM_017009974.2:c.7155G>T XP_016865463.1:p.Leu2385=