Canonical Allele Identifier: CA3341665
Community Standard Title: NM_032119.4(ADGRV1):c.14069T>G (p.Phe4690Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90790898T>G , CM000667.2:g.90790898T>G GRCh38
NC_000005.9:g.90086715T>G , CM000667.1:g.90086715T>G GRCh37
NC_000005.8:g.90122471T>G NCBI36
NG_007083.1:g.237099T>G
NG_007083.2:g.266555T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14069T>G MANE Select NP_115495.3:p.Phe4690Cys
ENST00000405460.9:c.14069T>G MANE Select ENSP00000384582.2:p.Phe4690Cys
NM_032119.3:c.14069T>G NP_115495.3:p.Phe4690Cys
NR_003149.1:n.14082T>G
NR_003149.2:n.14085T>G
ENST00000405460.6:c.14069T>G ENSP00000384582.2:p.Phe4690Cys
ENST00000425867.2:c.1052T>G ENSP00000392618.2:p.Phe351Cys
ENST00000425867.3:c.3023T>G ENSP00000392618.3:p.Phe1008Cys
ENST00000638510.1:n.1336T>G
ENST00000638975.1:c.698T>G ENSP00000492630.1:p.Phe233Cys
ENST00000639431.1:c.265+114689T>G ENSP00000491057.1:n.265+114689T>G
ENST00000640407.1:c.479T>G ENSP00000491425.1:p.Phe160Cys
XM_011543675.1:c.14066T>G XP_011541977.1:p.Phe4689Cys
XM_011543676.1:c.13988T>G XP_011541978.1:p.Phe4663Cys
XM_011543677.1:c.11372T>G XP_011541979.1:p.Phe3791Cys
XM_011543678.1:c.14069T>G XP_011541980.1:p.Phe4690Cys
XM_017009963.2:c.14090T>G XP_016865452.1:p.Phe4697Cys
XM_017009964.2:c.14087T>G XP_016865453.1:p.Phe4696Cys
XM_017009965.1:c.14087T>G XP_016865454.1:p.Phe4696Cys
XM_017009966.2:c.14009T>G XP_016865455.1:p.Phe4670Cys
XM_017009967.1:c.13994T>G XP_016865456.1:p.Phe4665Cys
XM_017009968.2:c.14090T>G XP_016865457.1:p.Phe4697Cys
XM_017009969.2:c.14090T>G XP_016865458.1:p.Phe4697Cys
XM_017009970.2:c.14090T>G XP_016865459.1:p.Phe4697Cys
XM_017009971.2:c.14090T>G XP_016865460.1:p.Phe4697Cys
XM_017009972.1:c.7208T>G XP_016865461.1:p.Phe2403Cys
XM_017009973.1:c.7187T>G XP_016865462.1:p.Phe2396Cys