Canonical Allele Identifier: CA381976378

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493257-A-C
• MyVariant Identifiers: chr11:g.74204302A>C (hg19) ; chr11:g.74493257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493257A>C , CM000673.2:g.74493257A>C	GRCh38
NC_000011.9:g.74204302A>C , CM000673.1:g.74204302A>C	GRCh37
NC_000011.8:g.73881950A>C	NCBI36
NG_051333.1:g.5457T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.447T>G MANE Select	ENSP00000309463.4:p.Asp149Glu
ENST00000310109.4:c.447T>G	ENSP00000309463.4:p.Asp149Glu
ENST00000527115.1:c.59T>G
ENST00000528085.1:c.181+210T>G
NM_001144869.1:c.447T>G	NP_001138341.1:p.Asp149Glu
XM_011545021.1:c.447T>G	XP_011543323.1:p.Asp149Glu
NM_001144869.2:c.447T>G	NP_001138341.1:p.Asp149Glu
NM_001329941.1:c.447T>G	NP_001316870.1:p.Asp149Glu
NM_001329942.1:c.237+210T>G	NP_001316871.1:n.237+210T>G
NM_001144869.3:c.447T>G MANE Select	NP_001138341.1:p.Asp149Glu
NM_001329941.2:c.447T>G	NP_001316870.1:p.Asp149Glu
NM_001329942.2:c.237+210T>G	NP_001316871.1:n.237+210T>G