Canonical Allele Identifier: CA360398786
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90789760-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90789760A>T , CM000667.2:g.90789760A>T GRCh38
NC_000005.9:g.90085577A>T , CM000667.1:g.90085577A>T GRCh37
NC_000005.8:g.90121333A>T NCBI36
NG_007083.1:g.235961A>T
NG_007083.2:g.265417A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.13952A>T MANE Select ENSP00000384582.2:p.Lys4651Met
ENST00000425867.3:c.2906A>T ENSP00000392618.3:p.Lys969Met
ENST00000638510.1:n.1219A>T
ENST00000638975.1:c.581A>T ENSP00000492630.1:p.Lys194Met
ENST00000639431.1:c.265+113551A>T ENSP00000491057.1:n.265+113551A>T
ENST00000640407.1:c.362A>T ENSP00000491425.1:p.Lys121Met
ENST00000405460.6:c.13952A>T ENSP00000384582.2:p.Lys4651Met
ENST00000425867.2:c.935A>T ENSP00000392618.2:p.Lys312Met
NM_032119.3:c.13952A>T NP_115495.3:p.Lys4651Met
NR_003149.1:n.13965A>T
XM_011543675.1:c.13949A>T XP_011541977.1:p.Lys4650Met
XM_011543676.1:c.13871A>T XP_011541978.1:p.Lys4624Met
XM_011543677.1:c.11255A>T XP_011541979.1:p.Lys3752Met
XM_011543678.1:c.13952A>T XP_011541980.1:p.Lys4651Met
NM_032119.4:c.13952A>T MANE Select NP_115495.3:p.Lys4651Met
XM_017009963.2:c.13973A>T XP_016865452.1:p.Lys4658Met
XM_017009964.2:c.13970A>T XP_016865453.1:p.Lys4657Met
XM_017009965.1:c.13970A>T XP_016865454.1:p.Lys4657Met
XM_017009966.2:c.13892A>T XP_016865455.1:p.Lys4631Met
XM_017009967.1:c.13877A>T XP_016865456.1:p.Lys4626Met
XM_017009968.2:c.13973A>T XP_016865457.1:p.Lys4658Met
XM_017009969.2:c.13973A>T XP_016865458.1:p.Lys4658Met
XM_017009970.2:c.13973A>T XP_016865459.1:p.Lys4658Met
XM_017009971.2:c.13973A>T XP_016865460.1:p.Lys4658Met
XM_017009972.1:c.7091A>T XP_016865461.1:p.Lys2364Met
XM_017009973.1:c.7070A>T XP_016865462.1:p.Lys2357Met
NR_003149.2:n.13968A>T