Canonical Allele Identifier: CA224979323

Gene: LIPT2 LIPT2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493537A>G , CM000673.2:g.74493537A>G	GRCh38
NC_000011.9:g.74204582A>G , CM000673.1:g.74204582A>G	GRCh37
NC_000011.8:g.73882230A>G	NCBI36
NG_051333.1:g.5177T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001144869.3:c.167T>C (LIPT2) MANE Select	NP_001138341.1:p.Val56Ala
ENST00000310109.5:c.167T>C (LIPT2) MANE Select	ENSP00000309463.4:p.Val56Ala
NM_001144869.1:c.167T>C (LIPT2)	NP_001138341.1:p.Val56Ala
NM_001144869.2:c.167T>C (LIPT2)	NP_001138341.1:p.Val56Ala
NM_001319240.1:c.-694A>G (LIPT2-AS1)	NP_001306169.1:n.-694A>G
NM_001329941.1:c.167T>C (LIPT2)	NP_001316870.1:p.Val56Ala
NM_001329941.2:c.167T>C (LIPT2)	NP_001316870.1:p.Val56Ala
NM_001329942.1:c.167T>C (LIPT2)	NP_001316871.1:p.Val56Ala
NM_001329942.2:c.167T>C (LIPT2)	NP_001316871.1:p.Val56Ala
NR_171028.1:n.158A>G (LIPT2-AS1)
ENST00000310109.4:c.167T>C (LIPT2)	ENSP00000309463.4:p.Val56Ala
ENST00000528085.1:c.111T>C (LIPT2)
XM_011545021.1:c.167T>C (LIPT2)	XP_011543323.1:p.Val56Ala
XR_132892.1:n.98A>G (LIPT2-AS1)