Canonical Allele Identifier: CA3618539
Community Standard Title: NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3113257C>T , CM000668.2:g.3113257C>T GRCh38
NC_000006.11:g.3113491C>T , CM000668.1:g.3113491C>T GRCh37
NC_000006.10:g.3058490C>T NCBI36
NG_063914.1:g.54417C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.1934C>T MANE Select NP_001341859.1:p.Thr645Met
ENST00000259808.9:c.1934C>T MANE Select ENSP00000259808.3:p.Thr645Met
NM_001317061.1:c.1445C>T NP_001303990.1:p.Thr482Met
NM_001317061.2:c.1445C>T NP_001303990.1:p.Thr482Met
NM_001317061.3:c.1445C>T NP_001303990.1:p.Thr482Met
NM_001354930.1:c.1934C>T NP_001341859.1:p.Thr645Met
NM_001354931.1:c.1796C>T NP_001341860.1:p.Thr599Met
NM_001354931.2:c.1796C>T NP_001341860.1:p.Thr599Met
NM_001354932.1:c.1445C>T NP_001341861.1:p.Thr482Met
NM_001354932.2:c.1445C>T NP_001341861.1:p.Thr482Met
NM_001354933.1:c.1445C>T NP_001341862.1:p.Thr482Met
NM_001354933.2:c.1445C>T NP_001341862.1:p.Thr482Met
NM_001354934.1:c.1445C>T NP_001341863.1:p.Thr482Met
NM_001354934.2:c.1445C>T NP_001341863.1:p.Thr482Met
NM_003804.3:c.1934C>T NP_003795.2:p.Thr645Met
NM_003804.4:c.1934C>T NP_003795.2:p.Thr645Met
NM_003804.5:c.1934C>T NP_003795.2:p.Thr645Met
NM_003804.6:c.1934C>T NP_003795.2:p.Thr645Met
ENST00000259808.8:c.1934C>T ENSP00000259808.3:p.Thr645Met
ENST00000380409.2:c.1934C>T ENSP00000369773.2:p.Thr645Met
ENST00000380409.3:c.1796C>T ENSP00000369773.3:p.Thr599Met
ENST00000676591.1:c.*1478C>T ENSP00000504592.1:n.*1478C>T
ENST00000676758.1:n.2686C>T
ENST00000676965.1:c.*1222C>T ENSP00000503708.1:n.*1222C>T
ENST00000677361.1:c.*1478C>T ENSP00000504823.1:n.*1478C>T
ENST00000677799.1:c.*1478C>T ENSP00000502975.1:n.*1478C>T
ENST00000678874.1:c.*3423C>T ENSP00000503002.1:n.*3423C>T
ENST00000679118.1:c.*1478C>T ENSP00000504232.1:n.*1478C>T
ENST00000679335.1:n.3073C>T
ENST00000679677.1:n.1361C>T
XM_005249457.3:c.1934C>T XP_005249514.2:p.Thr645Met
XM_011514969.1:c.1784C>T XP_011513271.1:p.Thr595Met
XM_017011403.1:c.1445C>T XP_016866892.1:p.Thr482Met
XM_017011404.2:c.1067C>T XP_016866893.1:p.Thr356Met
XR_001743928.2:n.843-3861G>A