Canonical Allele Identifier: CA3021844
Community Standard Title: NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99589649G>T , CM000666.2:g.99589649G>T GRCh38
NC_000004.11:g.100510806G>T , CM000666.1:g.100510806G>T GRCh37
NC_000004.10:g.100729829G>T NCBI36
NG_011469.1:g.30567G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.400G>T MANE Select NP_001373069.1:p.Glu134Ter
ENST00000265517.10:c.400G>T MANE Select ENSP00000265517.5:p.Glu134Ter
NM_000253.3:c.400G>T NP_000244.2:p.Glu134Ter
NM_000253.4:c.400G>T NP_000244.2:p.Glu134Ter
NM_001300785.1:c.481G>T NP_001287714.1:p.Glu161Ter
NM_001300785.2:c.151G>T NP_001287714.2:p.Glu51Ter
ENST00000265517.9:c.400G>T ENSP00000265517.5:p.Glu134Ter
ENST00000457717.5:c.400G>T ENSP00000400821.1:p.Glu134Ter
ENST00000457717.6:c.400G>T ENSP00000400821.1:p.Glu134Ter
ENST00000506883.5:c.430G>T ENSP00000426755.1:p.Glu144Ter
ENST00000511045.5:c.481G>T ENSP00000427679.1:p.Glu161Ter
ENST00000511045.6:c.151G>T ENSP00000427679.2:p.Glu51Ter
ENST00000619629.1:c.400G>T ENSP00000482850.1:p.Glu134Ter