Canonical Allele Identifier: CA224979337
Community Standard Title: NM_001144869.3(LIPT2):c.44C>T (p.Pro15Leu)
Gene: LIPT2 HGNC NCBI
LIPT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74493660G>A , CM000673.2:g.74493660G>A GRCh38
NC_000011.9:g.74204705G>A , CM000673.1:g.74204705G>A GRCh37
NC_000011.8:g.73882353G>A NCBI36
NG_051333.1:g.5054C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001144869.3:c.44C>T (LIPT2) MANE Select NP_001138341.1:p.Pro15Leu
ENST00000310109.5:c.44C>T (LIPT2) MANE Select ENSP00000309463.4:p.Pro15Leu
NM_001144869.1:c.44C>T (LIPT2) NP_001138341.1:p.Pro15Leu
NM_001144869.2:c.44C>T (LIPT2) NP_001138341.1:p.Pro15Leu
NM_001319240.1:c.-571G>A (LIPT2-AS1) NP_001306169.1:n.-571G>A
NM_001329941.1:c.44C>T (LIPT2) NP_001316870.1:p.Pro15Leu
NM_001329941.2:c.44C>T (LIPT2) NP_001316870.1:p.Pro15Leu
NM_001329942.1:c.44C>T (LIPT2) NP_001316871.1:p.Pro15Leu
NM_001329942.2:c.44C>T (LIPT2) NP_001316871.1:p.Pro15Leu
NR_171028.1:n.281G>A (LIPT2-AS1)
ENST00000310109.4:c.44C>T (LIPT2) ENSP00000309463.4:p.Pro15Leu
XM_011545021.1:c.44C>T (LIPT2) XP_011543323.1:p.Pro15Leu
XR_132892.1:n.221G>A (LIPT2-AS1)