Canonical Allele Identifier: CA381976380

Gene: LIPT2

Linked Data

• dbSNP Id: rs1864387983
• gnomAD v4: 11-74493258-T-C
• MyVariant Identifiers: chr11:g.74204303T>C (hg19) ; chr11:g.74493258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493258T>C , CM000673.2:g.74493258T>C	GRCh38
NC_000011.9:g.74204303T>C , CM000673.1:g.74204303T>C	GRCh37
NC_000011.8:g.73881951T>C	NCBI36
NG_051333.1:g.5456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.446A>G MANE Select	ENSP00000309463.4:p.Asp149Gly
ENST00000310109.4:c.446A>G	ENSP00000309463.4:p.Asp149Gly
ENST00000527115.1:c.58A>G
ENST00000528085.1:c.181+209A>G
NM_001144869.1:c.446A>G	NP_001138341.1:p.Asp149Gly
XM_011545021.1:c.446A>G	XP_011543323.1:p.Asp149Gly
NM_001144869.2:c.446A>G	NP_001138341.1:p.Asp149Gly
NM_001329941.1:c.446A>G	NP_001316870.1:p.Asp149Gly
NM_001329942.1:c.237+209A>G	NP_001316871.1:n.237+209A>G
NM_001144869.3:c.446A>G MANE Select	NP_001138341.1:p.Asp149Gly
NM_001329941.2:c.446A>G	NP_001316870.1:p.Asp149Gly
NM_001329942.2:c.237+209A>G	NP_001316871.1:n.237+209A>G