Canonical Allele Identifier: CA427822111

Gene: LIPT1 MITD1

Linked Data

• dbSNP Id: rs1452193836
• gnomAD v4: 2-99162326-G-A
• MyVariant Identifiers: chr2:g.99778789G>A (hg19) ; chr2:g.99162326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.99162326G>A , CM000664.2:g.99162326G>A	GRCh38
NC_000002.11:g.99778789G>A , CM000664.1:g.99778789G>A	GRCh37
NC_000002.10:g.99145221G>A	NCBI36
NG_050665.1:g.12372G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651691.1:c.369G>A (LIPT1) MANE Select	ENSP00000498546.1:p.Lys123=
ENST00000393471.2:c.369G>A (LIPT1)	ENSP00000377114.2:p.Lys123=
ENST00000393473.6:c.369G>A (LIPT1)	ENSP00000377115.2:p.Lys123=
ENST00000410042.1:c.-28+5900G>A	ENSP00000387111.1:n.-28+5900G>A
ENST00000422537.6:c.700-108C>T (MITD1)	ENSP00000413371.2:n.700-108C>T
ENST00000424491.5:c.63+11807G>A	ENSP00000390891.1:n.63+11807G>A
ENST00000434566.5:c.369G>A (LIPT1)	ENSP00000393591.1:p.Lys123=
ENST00000449211.1:c.369G>A (LIPT1)	ENSP00000387387.1:p.Lys123=
ENST00000487588.5:n.241-658C>T (MITD1)
NM_001204830.1:c.369G>A (LIPT1)	NP_001191759.1:p.Lys123=
NM_015929.3:c.369G>A (LIPT1)	NP_057013.1:p.Lys123=
NM_145197.2:c.369G>A (LIPT1)	NP_660198.1:p.Lys123=
NM_145198.2:c.369G>A (LIPT1)	NP_660199.1:p.Lys123=
NM_145199.2:c.369G>A (LIPT1)	NP_660200.1:p.Lys123=
NR_037935.1:n.854G>A (LIPT1)
NR_037936.1:n.530G>A (LIPT1)
XM_011510581.1:c.730-658C>T (MITD1)	XP_011508883.1:n.730-658C>T
XM_011510582.1:c.*2-658C>T (MITD1)	XP_011508884.1:n.*2-658C>T
XM_011510583.1:c.451-658C>T (MITD1)	XP_011508885.1:n.451-658C>T
XM_011510581.3:c.730-658C>T (MITD1)	XP_011508883.1:n.730-658C>T
XM_011510582.3:c.*2-658C>T (MITD1)	XP_011508884.1:n.*2-658C>T
XM_017003314.2:c.643-658C>T (MITD1)	XP_016858803.1:n.643-658C>T
XR_001738612.1:n.1032-658C>T (MITD1)
NM_145199.3:c.369G>A (LIPT1) MANE Select	NP_660200.1:p.Lys123=
NM_015929.4:c.369G>A (LIPT1)	NP_057013.1:p.Lys123=
NM_145197.3:c.369G>A (LIPT1)	NP_660198.1:p.Lys123=
NM_145198.3:c.369G>A (LIPT1)	NP_660199.1:p.Lys123=
NR_037936.2:n.518G>A (LIPT1)
NM_001204830.2:c.369G>A (LIPT1)	NP_001191759.1:p.Lys123=
NR_037935.2:n.854G>A (LIPT1)