Canonical Allele Identifier: CA1797272

Gene: LIPT1 MITD1

Linked Data

• ClinVar Variation Id: 452463
• ClinVar RCV Id: RCV000522755
• dbSNP Id: rs757713207
• ExAC: 2:99778492 T / TA
• gnomAD v2: 2-99778492-T-TA
• gnomAD v3: 2-99162029-T-TA
• gnomAD v4: 2-99162029-T-TA
• COSMIC: COSM6039767
• MyVariant Identifiers: chr2:g.99778499dup (hg19) ; chr2:g.99778492_99778493insA (hg19) ; chr2:g.99162036dup (hg38) ; chr2:g.99162029_99162030insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.99162036dup , CM000664.2:g.99162036dup	GRCh38
NC_000002.11:g.99778499dup , CM000664.1:g.99778499dup	GRCh37
NC_000002.10:g.99144931dup	NCBI36
NG_050665.1:g.12082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651691.1:c.79dup (LIPT1) MANE Select	ENSP00000498546.1:p.Thr27AsnfsTer14
ENST00000393471.2:c.79dup (LIPT1)	ENSP00000377114.2:p.Thr27AsnfsTer14
ENST00000393473.6:c.79dup (LIPT1)	ENSP00000377115.2:p.Thr27AsnfsTer14
ENST00000410042.1:c.-28+5610dup	ENSP00000387111.1:n.-28+5610dup
ENST00000415142.1:c.79dup (LIPT1)	ENSP00000398168.1:p.Thr27AsnfsTer14
ENST00000422537.6:c.888dup (MITD1)	ENSP00000413371.2:n.888dup
ENST00000424491.5:c.63+11517dup	ENSP00000390891.1:n.63+11517dup
ENST00000434566.5:c.79dup (LIPT1)	ENSP00000393591.1:p.Thr27AsnfsTer14
ENST00000436234.1:c.79dup (LIPT1)	ENSP00000406314.1:p.Thr27AsnfsTer?
ENST00000449211.1:c.79dup (LIPT1)	ENSP00000387387.1:p.Thr27AsnfsTer14
ENST00000487588.5:n.241-362dup (MITD1)
NM_001204830.1:c.79dup (LIPT1)	NP_001191759.1:p.Thr27AsnfsTer14
NM_015929.3:c.79dup (LIPT1)	NP_057013.1:p.Thr27AsnfsTer14
NM_145197.2:c.79dup (LIPT1)	NP_660198.1:p.Thr27AsnfsTer14
NM_145198.2:c.79dup (LIPT1)	NP_660199.1:p.Thr27AsnfsTer14
NM_145199.2:c.79dup (LIPT1)	NP_660200.1:p.Thr27AsnfsTer14
NR_037935.1:n.564dup (LIPT1)
NR_037936.1:n.240dup (LIPT1)
XM_011510581.1:c.730-362dup (MITD1)	XP_011508883.1:n.730-362dup
XM_011510582.1:c.*2-362dup (MITD1)	XP_011508884.1:n.*2-362dup
XM_011510583.1:c.451-362dup (MITD1)	XP_011508885.1:n.451-362dup
XM_011510581.3:c.730-362dup (MITD1)	XP_011508883.1:n.730-362dup
XM_011510582.3:c.*2-362dup (MITD1)	XP_011508884.1:n.*2-362dup
XM_017003314.2:c.643-362dup (MITD1)	XP_016858803.1:n.643-362dup
XR_001738612.1:n.1032-362dup (MITD1)
NM_145199.3:c.79dup (LIPT1) MANE Select	NP_660200.1:p.Thr27AsnfsTer14
NM_015929.4:c.79dup (LIPT1)	NP_057013.1:p.Thr27AsnfsTer14
NM_145197.3:c.79dup (LIPT1)	NP_660198.1:p.Thr27AsnfsTer14
NM_145198.3:c.79dup (LIPT1)	NP_660199.1:p.Thr27AsnfsTer14
NR_037936.2:n.228dup (LIPT1)
NM_001204830.2:c.79dup (LIPT1)	NP_001191759.1:p.Thr27AsnfsTer14
NR_037935.2:n.564dup (LIPT1)