Canonical Allele Identifier: CA3618413
Community Standard Title: NM_001354930.2(RIPK1):c.1335T>A (p.His445Gln)
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3105810T>A , CM000668.2:g.3105810T>A GRCh38
NC_000006.11:g.3106044T>A , CM000668.1:g.3106044T>A GRCh37
NC_000006.10:g.3051043T>A NCBI36
NG_063914.1:g.46970T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.1335T>A MANE Select NP_001341859.1:p.His445Gln
ENST00000259808.9:c.1335T>A MANE Select ENSP00000259808.3:p.His445Gln
NM_001317061.1:c.846T>A NP_001303990.1:p.His282Gln
NM_001317061.2:c.846T>A NP_001303990.1:p.His282Gln
NM_001317061.3:c.846T>A NP_001303990.1:p.His282Gln
NM_001354930.1:c.1335T>A NP_001341859.1:p.His445Gln
NM_001354931.1:c.1197T>A NP_001341860.1:p.His399Gln
NM_001354931.2:c.1197T>A NP_001341860.1:p.His399Gln
NM_001354932.1:c.846T>A NP_001341861.1:p.His282Gln
NM_001354932.2:c.846T>A NP_001341861.1:p.His282Gln
NM_001354933.1:c.846T>A NP_001341862.1:p.His282Gln
NM_001354933.2:c.846T>A NP_001341862.1:p.His282Gln
NM_001354934.1:c.846T>A NP_001341863.1:p.His282Gln
NM_001354934.2:c.846T>A NP_001341863.1:p.His282Gln
NM_003804.3:c.1335T>A NP_003795.2:p.His445Gln
NM_003804.4:c.1335T>A NP_003795.2:p.His445Gln
NM_003804.5:c.1335T>A NP_003795.2:p.His445Gln
NM_003804.6:c.1335T>A NP_003795.2:p.His445Gln
ENST00000259808.8:c.1335T>A ENSP00000259808.3:p.His445Gln
ENST00000380409.2:c.1335T>A ENSP00000369773.2:p.His445Gln
ENST00000380409.3:c.1197T>A ENSP00000369773.3:p.His399Gln
ENST00000479389.1:n.1240T>A
ENST00000676591.1:c.*879T>A ENSP00000504592.1:n.*879T>A
ENST00000676758.1:n.2087T>A
ENST00000676965.1:c.*623T>A ENSP00000503708.1:n.*623T>A
ENST00000677361.1:c.*879T>A ENSP00000504823.1:n.*879T>A
ENST00000677799.1:c.*879T>A ENSP00000502975.1:n.*879T>A
ENST00000678809.1:c.*650T>A ENSP00000503978.1:n.*650T>A
ENST00000678874.1:c.*2824T>A ENSP00000503002.1:n.*2824T>A
ENST00000679118.1:c.*879T>A ENSP00000504232.1:n.*879T>A
ENST00000679335.1:n.2474T>A
ENST00000679677.1:n.762T>A
ENST00000680389.1:n.1122T>A
XM_005249457.3:c.1335T>A XP_005249514.2:p.His445Gln
XM_011514969.1:c.1185T>A XP_011513271.1:p.His395Gln
XM_017011403.1:c.846T>A XP_016866892.1:p.His282Gln
XM_017011404.2:c.468T>A XP_016866893.1:p.His156Gln