Canonical Allele Identifier: CA224979270

Gene: LIPT2

Linked Data

• dbSNP Id: rs905577320
• MyVariant Identifiers: chr11:g.74204311C>G (hg19) ; chr11:g.74493266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493266C>G , CM000673.2:g.74493266C>G	GRCh38
NC_000011.9:g.74204311C>G , CM000673.1:g.74204311C>G	GRCh37
NC_000011.8:g.73881959C>G	NCBI36
NG_051333.1:g.5448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.438G>C MANE Select	ENSP00000309463.4:p.Trp146Cys
ENST00000310109.4:c.438G>C	ENSP00000309463.4:p.Trp146Cys
ENST00000527115.1:c.50G>C
ENST00000528085.1:c.181+201G>C
NM_001144869.1:c.438G>C	NP_001138341.1:p.Trp146Cys
XM_011545021.1:c.438G>C	XP_011543323.1:p.Trp146Cys
NM_001144869.2:c.438G>C	NP_001138341.1:p.Trp146Cys
NM_001329941.1:c.438G>C	NP_001316870.1:p.Trp146Cys
NM_001329942.1:c.237+201G>C	NP_001316871.1:n.237+201G>C
NM_001144869.3:c.438G>C MANE Select	NP_001138341.1:p.Trp146Cys
NM_001329941.2:c.438G>C	NP_001316870.1:p.Trp146Cys
NM_001329942.2:c.237+201G>C	NP_001316871.1:n.237+201G>C