Canonical Allele Identifier: CA1273761654

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.99162249C= , CM000664.2:g.99162249C= GRCh38
NC_000002.11:g.99778712C= , CM000664.1:g.99778712C= GRCh37
NC_000002.10:g.99145144C= NCBI36
NG_050665.1:g.12295C=

Transcript Alleles

HGVS Amino-acid Change
NM_145199.3:c.292C= (LIPT1) MANE Select NP_660200.1:p.Arg98=
ENST00000651691.1:c.292C= (LIPT1) MANE Select ENSP00000498546.1:p.Arg98=
NM_001204830.1:c.292C= (LIPT1) NP_001191759.1:p.Arg98=
NM_001204830.2:c.292C= (LIPT1) NP_001191759.1:p.Arg98=
NM_015929.3:c.292C= (LIPT1) NP_057013.1:p.Arg98=
NM_015929.4:c.292C= (LIPT1) NP_057013.1:p.Arg98=
NM_145197.2:c.292C= (LIPT1) NP_660198.1:p.Arg98=
NM_145197.3:c.292C= (LIPT1) NP_660198.1:p.Arg98=
NM_145198.2:c.292C= (LIPT1) NP_660199.1:p.Arg98=
NM_145198.3:c.292C= (LIPT1) NP_660199.1:p.Arg98=
NM_145199.2:c.292C= (LIPT1) NP_660200.1:p.Arg98=
NR_037935.1:n.777C= (LIPT1)
NR_037935.2:n.777C= (LIPT1)
NR_037936.1:n.453C= (LIPT1)
NR_037936.2:n.441C= (LIPT1)
ENST00000393471.2:c.292C= (LIPT1) ENSP00000377114.2:p.Arg98=
ENST00000393473.6:c.292C= (LIPT1) ENSP00000377115.2:p.Arg98=
ENST00000410042.1:c.-28+5823C= ENSP00000387111.1:n.-28+5823C=
ENST00000415142.1:c.292C= (LIPT1) ENSP00000398168.1:p.Arg98=
ENST00000422537.6:c.700-31G= (MITD1) ENSP00000413371.2:n.700-31G=
ENST00000424491.5:c.63+11730C= ENSP00000390891.1:n.63+11730C=
ENST00000434566.5:c.292C= (LIPT1) ENSP00000393591.1:p.Arg98=
ENST00000449211.1:c.292C= (LIPT1) ENSP00000387387.1:p.Arg98=
ENST00000487588.5:n.241-581G= (MITD1)
XM_011510581.1:c.730-581G= (MITD1) XP_011508883.1:n.730-581G=
XM_011510581.3:c.730-581G= (MITD1) XP_011508883.1:n.730-581G=
XM_011510582.1:c.*2-581G= (MITD1) XP_011508884.1:n.*2-581G=
XM_011510582.3:c.*2-581G= (MITD1) XP_011508884.1:n.*2-581G=
XM_011510583.1:c.451-581G= (MITD1) XP_011508885.1:n.451-581G=
XM_017003314.2:c.643-581G= (MITD1) XP_016858803.1:n.643-581G=
XR_001738612.1:n.1032-581G= (MITD1)