Canonical Allele Identifier: CA3341099
Community Standard Title: NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90759415G>A , CM000667.2:g.90759415G>A GRCh38
NC_000005.9:g.90055232G>A , CM000667.1:g.90055232G>A GRCh37
NC_000005.8:g.90090988G>A NCBI36
NG_007083.1:g.205616G>A
NG_007083.2:g.235072G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.11947G>A MANE Select NP_115495.3:p.Ala3983Thr
ENST00000405460.9:c.11947G>A MANE Select ENSP00000384582.2:p.Ala3983Thr
NM_032119.3:c.11947G>A NP_115495.3:p.Ala3983Thr
NR_003149.1:n.11960G>A
NR_003149.2:n.11963G>A
ENST00000405460.6:c.11947G>A ENSP00000384582.2:p.Ala3983Thr
ENST00000425867.3:c.901G>A ENSP00000392618.3:p.Ala301Thr
ENST00000509621.1:c.4644G>A
ENST00000639431.1:c.265+83206G>A ENSP00000491057.1:n.265+83206G>A
ENST00000639884.1:n.601G>A
ENST00000640374.1:n.4914G>A
ENST00000640464.1:n.2366G>A
XM_011543675.1:c.11944G>A XP_011541977.1:p.Ala3982Thr
XM_011543676.1:c.11866G>A XP_011541978.1:p.Ala3956Thr
XM_011543677.1:c.9250G>A XP_011541979.1:p.Ala3084Thr
XM_011543678.1:c.11947G>A XP_011541980.1:p.Ala3983Thr
XM_017009963.2:c.11968G>A XP_016865452.1:p.Ala3990Thr
XM_017009964.2:c.11965G>A XP_016865453.1:p.Ala3989Thr
XM_017009965.1:c.11965G>A XP_016865454.1:p.Ala3989Thr
XM_017009966.2:c.11887G>A XP_016865455.1:p.Ala3963Thr
XM_017009967.1:c.11872G>A XP_016865456.1:p.Ala3958Thr
XM_017009968.2:c.11968G>A XP_016865457.1:p.Ala3990Thr
XM_017009969.2:c.11968G>A XP_016865458.1:p.Ala3990Thr
XM_017009970.2:c.11968G>A XP_016865459.1:p.Ala3990Thr
XM_017009971.2:c.11968G>A XP_016865460.1:p.Ala3990Thr
XM_017009972.1:c.5086G>A XP_016865461.1:p.Ala1696Thr
XM_017009973.1:c.5065G>A XP_016865462.1:p.Ala1689Thr