Canonical Allele Identifier: CA1797254
Gene: LIPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.99155507C>A , CM000664.2:g.99155507C>A GRCh38
NC_000002.11:g.99771970C>A , CM000664.1:g.99771970C>A GRCh37
NC_000002.10:g.99138402C>A NCBI36
NG_050665.1:g.5553C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651691.1:c.-2+456C>A MANE Select ENSP00000498546.1:n.-2+456C>A
ENST00000393471.2:c.-2+456C>A ENSP00000377114.2:n.-2+456C>A
ENST00000393473.6:c.-128+456C>A ENSP00000377115.2:n.-128+456C>A
ENST00000410042.1:c.-154+456C>A ENSP00000387111.1:n.-154+456C>A
ENST00000415142.1:c.-165C>A ENSP00000398168.1:n.-165C>A
ENST00000424491.5:c.63+4988C>A ENSP00000390891.1:n.63+4988C>A
ENST00000434566.5:c.-39C>A ENSP00000393591.1:n.-39C>A
ENST00000436234.1:c.-39C>A ENSP00000406314.1:n.-39C>A
ENST00000449211.1:c.-2+456C>A ENSP00000387387.1:n.-2+456C>A
ENST00000480170.1:n.59+456C>A
NM_001204830.1:c.-128+139C>A NP_001191759.1:n.-128+139C>A
NM_015929.3:c.-128+456C>A NP_057013.1:n.-128+456C>A
NM_145197.2:c.-256+456C>A NP_660198.1:n.-256+456C>A
NM_145198.2:c.-244+456C>A NP_660199.1:n.-244+456C>A
NM_145199.2:c.-2+456C>A NP_660200.1:n.-2+456C>A
NR_037935.1:n.321C>A
NR_037936.1:n.123C>A
NM_145199.3:c.-2+456C>A MANE Select NP_660200.1:n.-2+456C>A
NM_015929.4:c.-128+456C>A NP_057013.1:n.-128+456C>A
NM_145197.3:c.-256+456C>A NP_660198.1:n.-256+456C>A
NM_145198.3:c.-244+456C>A NP_660199.1:n.-244+456C>A
NR_037936.2:n.111C>A
NM_001204830.2:c.-128+139C>A NP_001191759.1:n.-128+139C>A
NR_037935.2:n.321C>A