Canonical Allele Identifier: CA3342285
Community Standard Title: NM_032119.4(ADGRV1):c.17063G>A (p.Arg5688Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90848680G>A , CM000667.2:g.90848680G>A GRCh38
NC_000005.9:g.90144497G>A , CM000667.1:g.90144497G>A GRCh37
NC_000005.8:g.90180253G>A NCBI36
NG_007083.1:g.294881G>A
NG_007083.2:g.324337G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.17063G>A MANE Select NP_115495.3:p.Arg5688Gln
ENST00000405460.9:c.17063G>A MANE Select ENSP00000384582.2:p.Arg5688Gln
NM_032119.3:c.17063G>A NP_115495.3:p.Arg5688Gln
NR_003149.1:n.17076G>A
NR_003149.2:n.17079G>A
ENST00000405460.6:c.17063G>A ENSP00000384582.2:p.Arg5688Gln
ENST00000425867.2:c.4046G>A ENSP00000392618.2:p.Arg1349Gln
ENST00000425867.3:c.6017G>A ENSP00000392618.3:p.Arg2006Gln
ENST00000505845.1:n.254G>A
ENST00000505845.2:n.254G>A
ENST00000638510.1:n.4330G>A
ENST00000638990.1:c.84G>A
ENST00000639431.1:c.266-136664G>A ENSP00000491057.1:n.266-136664G>A
ENST00000640061.1:n.580G>A
ENST00000640407.1:c.3512G>A ENSP00000491425.1:n.3512G>A
XM_011543675.1:c.17060G>A XP_011541977.1:p.Arg5687Gln
XM_011543676.1:c.16982G>A XP_011541978.1:p.Arg5661Gln
XM_011543677.1:c.14366G>A XP_011541979.1:p.Arg4789Gln
XM_017009963.2:c.17084G>A XP_016865452.1:p.Arg5695Gln
XM_017009964.2:c.17081G>A XP_016865453.1:p.Arg5694Gln
XM_017009965.1:c.17081G>A XP_016865454.1:p.Arg5694Gln
XM_017009966.2:c.17003G>A XP_016865455.1:p.Arg5668Gln
XM_017009967.1:c.16988G>A XP_016865456.1:p.Arg5663Gln
XM_017009968.2:c.16904G>A XP_016865457.1:p.Arg5635Gln
XM_017009969.2:c.17084G>A XP_016865458.1:p.Arg5695Gln
XM_017009972.1:c.10202G>A XP_016865461.1:p.Arg3401Gln
XM_017009973.1:c.10181G>A XP_016865462.1:p.Arg3394Gln