Canonical Allele Identifier: CA3618533
Community Standard Title: NM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln)
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3113185G>A , CM000668.2:g.3113185G>A GRCh38
NC_000006.11:g.3113419G>A , CM000668.1:g.3113419G>A GRCh37
NC_000006.10:g.3058418G>A NCBI36
NG_063914.1:g.54345G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.1862G>A MANE Select NP_001341859.1:p.Arg621Gln
ENST00000259808.9:c.1862G>A MANE Select ENSP00000259808.3:p.Arg621Gln
NM_001317061.1:c.1373G>A NP_001303990.1:p.Arg458Gln
NM_001317061.2:c.1373G>A NP_001303990.1:p.Arg458Gln
NM_001317061.3:c.1373G>A NP_001303990.1:p.Arg458Gln
NM_001354930.1:c.1862G>A NP_001341859.1:p.Arg621Gln
NM_001354931.1:c.1724G>A NP_001341860.1:p.Arg575Gln
NM_001354931.2:c.1724G>A NP_001341860.1:p.Arg575Gln
NM_001354932.1:c.1373G>A NP_001341861.1:p.Arg458Gln
NM_001354932.2:c.1373G>A NP_001341861.1:p.Arg458Gln
NM_001354933.1:c.1373G>A NP_001341862.1:p.Arg458Gln
NM_001354933.2:c.1373G>A NP_001341862.1:p.Arg458Gln
NM_001354934.1:c.1373G>A NP_001341863.1:p.Arg458Gln
NM_001354934.2:c.1373G>A NP_001341863.1:p.Arg458Gln
NM_003804.3:c.1862G>A NP_003795.2:p.Arg621Gln
NM_003804.4:c.1862G>A NP_003795.2:p.Arg621Gln
NM_003804.5:c.1862G>A NP_003795.2:p.Arg621Gln
NM_003804.6:c.1862G>A NP_003795.2:p.Arg621Gln
ENST00000259808.8:c.1862G>A ENSP00000259808.3:p.Arg621Gln
ENST00000380409.2:c.1862G>A ENSP00000369773.2:p.Arg621Gln
ENST00000380409.3:c.1724G>A ENSP00000369773.3:p.Arg575Gln
ENST00000676591.1:c.*1406G>A ENSP00000504592.1:n.*1406G>A
ENST00000676758.1:n.2614G>A
ENST00000676965.1:c.*1150G>A ENSP00000503708.1:n.*1150G>A
ENST00000677361.1:c.*1406G>A ENSP00000504823.1:n.*1406G>A
ENST00000677799.1:c.*1406G>A ENSP00000502975.1:n.*1406G>A
ENST00000678874.1:c.*3351G>A ENSP00000503002.1:n.*3351G>A
ENST00000679118.1:c.*1406G>A ENSP00000504232.1:n.*1406G>A
ENST00000679335.1:n.3001G>A
ENST00000679677.1:n.1289G>A
XM_005249457.3:c.1862G>A XP_005249514.2:p.Arg621Gln
XM_011514969.1:c.1712G>A XP_011513271.1:p.Arg571Gln
XM_017011403.1:c.1373G>A XP_016866892.1:p.Arg458Gln
XM_017011404.2:c.995G>A XP_016866893.1:p.Arg332Gln
XR_001743928.2:n.843-3789C>T