Canonical Allele Identifier: CA3342306
Community Standard Title: NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90848804C>T , CM000667.2:g.90848804C>T GRCh38
NC_000005.9:g.90144621C>T , CM000667.1:g.90144621C>T GRCh37
NC_000005.8:g.90180377C>T NCBI36
NG_007083.1:g.295005C>T
NG_007083.2:g.324461C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.17187C>T MANE Select NP_115495.3:p.Cys5729=
ENST00000405460.9:c.17187C>T MANE Select ENSP00000384582.2:p.Cys5729=
NM_032119.3:c.17187C>T NP_115495.3:p.Cys5729=
NR_003149.1:n.17200C>T
NR_003149.2:n.17203C>T
ENST00000405460.6:c.17187C>T ENSP00000384582.2:p.Cys5729=
ENST00000425867.2:c.4170C>T ENSP00000392618.2:p.Cys1390=
ENST00000425867.3:c.6141C>T ENSP00000392618.3:p.Cys2047=
ENST00000505845.1:n.378C>T
ENST00000505845.2:n.378C>T
ENST00000638510.1:n.4454C>T
ENST00000638990.1:c.208C>T
ENST00000639431.1:c.266-136540C>T ENSP00000491057.1:n.266-136540C>T
ENST00000640407.1:c.3636C>T ENSP00000491425.1:n.3636C>T
XM_011543675.1:c.17184C>T XP_011541977.1:p.Cys5728=
XM_011543676.1:c.17106C>T XP_011541978.1:p.Cys5702=
XM_011543677.1:c.14490C>T XP_011541979.1:p.Cys4830=
XM_017009963.2:c.17208C>T XP_016865452.1:p.Cys5736=
XM_017009964.2:c.17205C>T XP_016865453.1:p.Cys5735=
XM_017009965.1:c.17205C>T XP_016865454.1:p.Cys5735=
XM_017009966.2:c.17127C>T XP_016865455.1:p.Cys5709=
XM_017009967.1:c.17112C>T XP_016865456.1:p.Cys5704=
XM_017009968.2:c.17028C>T XP_016865457.1:p.Cys5676=
XM_017009969.2:c.17208C>T XP_016865458.1:p.Cys5736=
XM_017009972.1:c.10326C>T XP_016865461.1:p.Cys3442=
XM_017009973.1:c.10305C>T XP_016865462.1:p.Cys3435=