Canonical Allele Identifier: CA427822421

Gene: LIPT1 MITD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.99162638A>G , CM000664.2:g.99162638A>G	GRCh38
NC_000002.11:g.99779101A>G , CM000664.1:g.99779101A>G	GRCh37
NC_000002.10:g.99145533A>G	NCBI36
NG_050665.1:g.12684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651691.1:c.681A>G (LIPT1) MANE Select	ENSP00000498546.1:p.Leu227=
ENST00000393471.2:c.681A>G (LIPT1)	ENSP00000377114.2:p.Leu227=
ENST00000393473.6:c.681A>G (LIPT1)	ENSP00000377115.2:p.Leu227=
ENST00000410042.1:c.-28+6212A>G	ENSP00000387111.1:n.-28+6212A>G
ENST00000422537.6:c.700-420T>C (MITD1)	ENSP00000413371.2:n.700-420T>C
ENST00000424491.5:c.63+12119A>G	ENSP00000390891.1:n.63+12119A>G
ENST00000434566.5:c.681A>G (LIPT1)	ENSP00000393591.1:p.Leu227=
ENST00000487588.5:n.241-970T>C (MITD1)
NM_001204830.1:c.681A>G (LIPT1)	NP_001191759.1:p.Leu227=
NM_015929.3:c.681A>G (LIPT1)	NP_057013.1:p.Leu227=
NM_145197.2:c.681A>G (LIPT1)	NP_660198.1:p.Leu227=
NM_145198.2:c.681A>G (LIPT1)	NP_660199.1:p.Leu227=
NM_145199.2:c.681A>G (LIPT1)	NP_660200.1:p.Leu227=
NR_037935.1:n.1166A>G (LIPT1)
NR_037936.1:n.842A>G (LIPT1)
XM_011510581.1:c.730-970T>C (MITD1)	XP_011508883.1:n.730-970T>C
XM_011510582.1:c.*2-970T>C (MITD1)	XP_011508884.1:n.*2-970T>C
XM_011510583.1:c.451-970T>C (MITD1)	XP_011508885.1:n.451-970T>C
XM_011510581.3:c.730-970T>C (MITD1)	XP_011508883.1:n.730-970T>C
XM_011510582.3:c.*2-970T>C (MITD1)	XP_011508884.1:n.*2-970T>C
XM_017003314.2:c.643-970T>C (MITD1)	XP_016858803.1:n.643-970T>C
XR_001738612.1:n.1032-970T>C (MITD1)
NM_145199.3:c.681A>G (LIPT1) MANE Select	NP_660200.1:p.Leu227=
NM_015929.4:c.681A>G (LIPT1)	NP_057013.1:p.Leu227=
NM_145197.3:c.681A>G (LIPT1)	NP_660198.1:p.Leu227=
NM_145198.3:c.681A>G (LIPT1)	NP_660199.1:p.Leu227=
NR_037936.2:n.830A>G (LIPT1)
NM_001204830.2:c.681A>G (LIPT1)	NP_001191759.1:p.Leu227=
NR_037935.2:n.1166A>G (LIPT1)