Canonical Allele Identifier: CA3339759
Community Standard Title: NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90685837T>C , CM000667.2:g.90685837T>C GRCh38
NC_000005.9:g.89981654T>C , CM000667.1:g.89981654T>C GRCh37
NC_000005.8:g.90017410T>C NCBI36
NG_007083.1:g.132038T>C
NG_007083.2:g.161494T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6332T>C MANE Select NP_115495.3:p.Ile2111Thr
ENST00000405460.9:c.6332T>C MANE Select ENSP00000384582.2:p.Ile2111Thr
NM_032119.3:c.6332T>C NP_115495.3:p.Ile2111Thr
NR_003149.1:n.6428T>C
NR_003149.2:n.6431T>C
ENST00000405460.6:c.6332T>C ENSP00000384582.2:p.Ile2111Thr
ENST00000639431.1:c.265+9628T>C ENSP00000491057.1:n.265+9628T>C
ENST00000639473.1:n.1791T>C
ENST00000640012.1:c.222T>C
ENST00000640403.1:c.3623T>C ENSP00000492531.1:p.Ile1208Thr
ENST00000640779.1:c.1144T>C
XM_011543675.1:c.6329T>C XP_011541977.1:p.Ile2110Thr
XM_011543676.1:c.6251T>C XP_011541978.1:p.Ile2084Thr
XM_011543677.1:c.3635T>C XP_011541979.1:p.Ile1212Thr
XM_011543678.1:c.6332T>C XP_011541980.1:p.Ile2111Thr
XM_011543679.1:c.6332T>C XP_011541981.1:p.Ile2111Thr
XM_017009963.2:c.6332T>C XP_016865452.1:p.Ile2111Thr
XM_017009964.2:c.6329T>C XP_016865453.1:p.Ile2110Thr
XM_017009965.1:c.6329T>C XP_016865454.1:p.Ile2110Thr
XM_017009966.2:c.6251T>C XP_016865455.1:p.Ile2084Thr
XM_017009967.1:c.6236T>C XP_016865456.1:p.Ile2079Thr
XM_017009968.2:c.6332T>C XP_016865457.1:p.Ile2111Thr
XM_017009969.2:c.6332T>C XP_016865458.1:p.Ile2111Thr
XM_017009970.2:c.6332T>C XP_016865459.1:p.Ile2111Thr
XM_017009971.2:c.6332T>C XP_016865460.1:p.Ile2111Thr
XM_017009973.1:c.-468T>C XP_016865462.1:n.-468T>C
XM_017009974.2:c.6332T>C XP_016865463.1:p.Ile2111Thr