Canonical Allele Identifier: CA475888303

Gene: LIPT2

Linked Data

• dbSNP Id: rs1253209165
• gnomAD v4: 11-74493284-C-A
• MyVariant Identifiers: chr11:g.74204329C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493284C>A , CM000673.2:g.74493284C>A	GRCh38
NC_000011.9:g.74204329C>A , CM000673.1:g.74204329C>A	GRCh37
NC_000011.8:g.73881977C>A	NCBI36
NG_051333.1:g.5430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.420G>T MANE Select	ENSP00000309463.4:p.Pro140=
ENST00000310109.4:c.420G>T	ENSP00000309463.4:p.Pro140=
ENST00000527115.1:c.32G>T
ENST00000528085.1:c.181+183G>T
NM_001144869.1:c.420G>T	NP_001138341.1:p.Pro140=
XM_011545021.1:c.420G>T	XP_011543323.1:p.Pro140=
NM_001144869.2:c.420G>T	NP_001138341.1:p.Pro140=
NM_001329941.1:c.420G>T	NP_001316870.1:p.Pro140=
NM_001329942.1:c.237+183G>T	NP_001316871.1:n.237+183G>T
NM_001144869.3:c.420G>T MANE Select	NP_001138341.1:p.Pro140=
NM_001329941.2:c.420G>T	NP_001316870.1:p.Pro140=
NM_001329942.2:c.237+183G>T	NP_001316871.1:n.237+183G>T