Canonical Allele Identifier: CA16604402

Gene: LIPT1 MITD1

Linked Data

• ClinVar Variation Id: 392413
• ClinVar RCV Id: RCV000422364
• dbSNP Id: rs1057524480
• gnomAD v2: 2-99778928-G-A
• gnomAD v3: 2-99162465-G-A
• gnomAD v4: 2-99162465-G-A
• MyVariant Identifiers: chr2:g.99778928G>A (hg19) ; chr2:g.99162465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.99162465G>A , CM000664.2:g.99162465G>A	GRCh38
NC_000002.11:g.99778928G>A , CM000664.1:g.99778928G>A	GRCh37
NC_000002.10:g.99145360G>A	NCBI36
NG_050665.1:g.12511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651691.1:c.508G>A (LIPT1) MANE Select	ENSP00000498546.1:p.Gly170Ser
ENST00000393471.2:c.508G>A (LIPT1)	ENSP00000377114.2:p.Gly170Ser
ENST00000393473.6:c.508G>A (LIPT1)	ENSP00000377115.2:p.Gly170Ser
ENST00000410042.1:c.-28+6039G>A	ENSP00000387111.1:n.-28+6039G>A
ENST00000422537.6:c.700-247C>T (MITD1)	ENSP00000413371.2:n.700-247C>T
ENST00000424491.5:c.63+11946G>A	ENSP00000390891.1:n.63+11946G>A
ENST00000434566.5:c.508G>A (LIPT1)	ENSP00000393591.1:p.Gly170Ser
ENST00000487588.5:n.241-797C>T (MITD1)
NM_001204830.1:c.508G>A (LIPT1)	NP_001191759.1:p.Gly170Ser
NM_015929.3:c.508G>A (LIPT1)	NP_057013.1:p.Gly170Ser
NM_145197.2:c.508G>A (LIPT1)	NP_660198.1:p.Gly170Ser
NM_145198.2:c.508G>A (LIPT1)	NP_660199.1:p.Gly170Ser
NM_145199.2:c.508G>A (LIPT1)	NP_660200.1:p.Gly170Ser
NR_037935.1:n.993G>A (LIPT1)
NR_037936.1:n.669G>A (LIPT1)
XM_011510581.1:c.730-797C>T (MITD1)	XP_011508883.1:n.730-797C>T
XM_011510582.1:c.*2-797C>T (MITD1)	XP_011508884.1:n.*2-797C>T
XM_011510583.1:c.451-797C>T (MITD1)	XP_011508885.1:n.451-797C>T
XM_011510581.3:c.730-797C>T (MITD1)	XP_011508883.1:n.730-797C>T
XM_011510582.3:c.*2-797C>T (MITD1)	XP_011508884.1:n.*2-797C>T
XM_017003314.2:c.643-797C>T (MITD1)	XP_016858803.1:n.643-797C>T
XR_001738612.1:n.1032-797C>T (MITD1)
NM_145199.3:c.508G>A (LIPT1) MANE Select	NP_660200.1:p.Gly170Ser
NM_015929.4:c.508G>A (LIPT1)	NP_057013.1:p.Gly170Ser
NM_145197.3:c.508G>A (LIPT1)	NP_660198.1:p.Gly170Ser
NM_145198.3:c.508G>A (LIPT1)	NP_660199.1:p.Gly170Ser
NR_037936.2:n.657G>A (LIPT1)
NM_001204830.2:c.508G>A (LIPT1)	NP_001191759.1:p.Gly170Ser
NR_037935.2:n.993G>A (LIPT1)