Canonical Allele Identifier: CA3021998
Community Standard Title: NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99597129G>A , CM000666.2:g.99597129G>A GRCh38
NC_000004.11:g.100518286G>A , CM000666.1:g.100518286G>A GRCh37
NC_000004.10:g.100737309G>A NCBI36
NG_011469.1:g.38047G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.972G>A MANE Select NP_001373069.1:p.Glu324=
ENST00000265517.10:c.972G>A MANE Select ENSP00000265517.5:p.Glu324=
NM_000253.3:c.972G>A NP_000244.2:p.Glu324=
NM_000253.4:c.972G>A NP_000244.2:p.Glu324=
NM_001300785.1:c.1053G>A NP_001287714.1:p.Glu351=
NM_001300785.2:c.723G>A NP_001287714.2:p.Glu241=
ENST00000265517.9:c.972G>A ENSP00000265517.5:p.Glu324=
ENST00000457717.5:c.972G>A ENSP00000400821.1:p.Glu324=
ENST00000457717.6:c.972G>A ENSP00000400821.1:p.Glu324=
ENST00000511045.5:c.1053G>A ENSP00000427679.1:p.Glu351=
ENST00000511045.6:c.723G>A ENSP00000427679.2:p.Glu241=
ENST00000619629.1:c.972G>A ENSP00000482850.1:p.Glu324=