Canonical Allele Identifier: CA2355244
Community Standard Title: NM_002343.6(LTF):c.1564C>T (p.Leu522Phe)
Gene: LTF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46443532G>A , CM000665.2:g.46443532G>A GRCh38
NC_000003.11:g.46485023G>A , CM000665.1:g.46485023G>A GRCh37
NC_000003.10:g.46460027G>A NCBI36
NG_023257.1:g.26373C>T
NG_023257.2:g.46703C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002343.6:c.1564C>T MANE Select NP_002334.2:p.Leu522Phe
ENST00000231751.9:c.1564C>T MANE Select ENSP00000231751.4:p.Leu522Phe
NM_001199149.1:c.1432C>T NP_001186078.1:p.Leu478Phe
NM_001199149.2:c.1432C>T NP_001186078.1:p.Leu478Phe
NM_001321121.1:c.1558C>T NP_001308050.1:p.Leu520Phe
NM_001321121.2:c.1558C>T NP_001308050.1:p.Leu520Phe
NM_001321122.1:c.1525C>T NP_001308051.1:p.Leu509Phe
NM_001321122.2:c.1525C>T NP_001308051.1:p.Leu509Phe
NM_002343.4:c.1564C>T NP_002334.2:p.Leu522Phe
NM_002343.5:c.1564C>T NP_002334.2:p.Leu522Phe
ENST00000231751.8:c.1564C>T ENSP00000231751.4:p.Leu522Phe
ENST00000417439.5:c.1558C>T ENSP00000405546.1:p.Leu520Phe
ENST00000426532.6:c.1432C>T ENSP00000405719.2:p.Leu478Phe
ENST00000443496.5:c.1525C>T ENSP00000397427.1:p.Leu509Phe
ENST00000478874.2:n.179-2049C>T