Canonical Allele Identifier: CA381976640

Gene: LIPT2 LIPT2-AS1

Linked Data

• ClinVar Variation Id: 438641
• ClinVar RCV Id: RCV000505511
• dbSNP Id: rs1190703859
• gnomAD v3: 11-74493390-A-C
• gnomAD v4: 11-74493390-A-C
• MyVariant Identifiers: chr11:g.74204435A>C (hg19) ; chr11:g.74493390A>C (hg38)
• PubMed: PMID:28757203

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493390A>C , CM000673.2:g.74493390A>C	GRCh38
NC_000011.9:g.74204435A>C , CM000673.1:g.74204435A>C	GRCh37
NC_000011.8:g.73882083A>C	NCBI36
NG_051333.1:g.5324T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310109.5:c.314T>G (LIPT2) MANE Select	ENSP00000309463.4:p.Leu105Arg
ENST00000310109.4:c.314T>G (LIPT2)	ENSP00000309463.4:p.Leu105Arg
ENST00000528085.1:c.181+77T>G (LIPT2)
NM_001144869.1:c.314T>G (LIPT2)	NP_001138341.1:p.Leu105Arg
XM_011545021.1:c.314T>G (LIPT2)	XP_011543323.1:p.Leu105Arg
NM_001144869.2:c.314T>G (LIPT2)	NP_001138341.1:p.Leu105Arg
NM_001319240.1:c.-841A>C (LIPT2-AS1)	NP_001306169.1:n.-841A>C
NM_001329941.1:c.314T>G (LIPT2)	NP_001316870.1:p.Leu105Arg
NM_001329942.1:c.237+77T>G (LIPT2)	NP_001316871.1:n.237+77T>G
NM_001144869.3:c.314T>G (LIPT2) MANE Select	NP_001138341.1:p.Leu105Arg
NM_001329941.2:c.314T>G (LIPT2)	NP_001316870.1:p.Leu105Arg
NM_001329942.2:c.237+77T>G (LIPT2)	NP_001316871.1:n.237+77T>G
NR_171028.1:n.11A>C (LIPT2-AS1)