Canonical Allele Identifier: CA362583224
Community Standard Title: NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3089634G>A , CM000668.2:g.3089634G>A GRCh38
NC_000006.11:g.3089868G>A , CM000668.1:g.3089868G>A GRCh37
NC_000006.10:g.3034867G>A NCBI36
NG_063914.1:g.30794G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.892G>A MANE Select NP_001341859.1:p.Glu298Lys
ENST00000259808.9:c.892G>A MANE Select ENSP00000259808.3:p.Glu298Lys
NM_001317061.1:c.403G>A NP_001303990.1:p.Glu135Lys
NM_001317061.2:c.403G>A NP_001303990.1:p.Glu135Lys
NM_001317061.3:c.403G>A NP_001303990.1:p.Glu135Lys
NM_001354930.1:c.892G>A NP_001341859.1:p.Glu298Lys
NM_001354931.1:c.754G>A NP_001341860.1:p.Glu252Lys
NM_001354931.2:c.754G>A NP_001341860.1:p.Glu252Lys
NM_001354932.1:c.403G>A NP_001341861.1:p.Glu135Lys
NM_001354932.2:c.403G>A NP_001341861.1:p.Glu135Lys
NM_001354933.1:c.403G>A NP_001341862.1:p.Glu135Lys
NM_001354933.2:c.403G>A NP_001341862.1:p.Glu135Lys
NM_001354934.1:c.403G>A NP_001341863.1:p.Glu135Lys
NM_001354934.2:c.403G>A NP_001341863.1:p.Glu135Lys
NM_003804.3:c.892G>A NP_003795.2:p.Glu298Lys
NM_003804.4:c.892G>A NP_003795.2:p.Glu298Lys
NM_003804.5:c.892G>A NP_003795.2:p.Glu298Lys
NM_003804.6:c.892G>A NP_003795.2:p.Glu298Lys
ENST00000259808.8:c.892G>A ENSP00000259808.3:p.Glu298Lys
ENST00000380409.2:c.892G>A ENSP00000369773.2:p.Glu298Lys
ENST00000380409.3:c.754G>A ENSP00000369773.3:p.Glu252Lys
ENST00000479389.1:n.797G>A
ENST00000676591.1:c.*436G>A ENSP00000504592.1:n.*436G>A
ENST00000676618.1:c.*436G>A ENSP00000503154.1:n.*436G>A
ENST00000676758.1:n.1644G>A
ENST00000676965.1:c.*180G>A ENSP00000503708.1:n.*180G>A
ENST00000676995.1:n.1045G>A
ENST00000677261.1:n.577-1024G>A
ENST00000677361.1:c.*436G>A ENSP00000504823.1:n.*436G>A
ENST00000677799.1:c.*436G>A ENSP00000502975.1:n.*436G>A
ENST00000678084.1:n.1114G>A
ENST00000678809.1:c.*207G>A ENSP00000503978.1:n.*207G>A
ENST00000678874.1:c.*2381G>A ENSP00000503002.1:n.*2381G>A
ENST00000679118.1:c.*436G>A ENSP00000504232.1:n.*436G>A
ENST00000679335.1:n.2031G>A
ENST00000679775.1:n.93G>A
ENST00000680389.1:n.679G>A
XM_005249457.3:c.892G>A XP_005249514.2:p.Glu298Lys
XM_006715237.2:c.892G>A XP_006715300.2:p.Glu298Lys
XM_006715237.3:c.892G>A XP_006715300.2:p.Glu298Lys
XM_011514969.1:c.742G>A XP_011513271.1:p.Glu248Lys
XM_017011403.1:c.403G>A XP_016866892.1:p.Glu135Lys
XM_017011405.1:c.892G>A XP_016866894.1:p.Glu298Lys