Canonical Allele Identifier: CA3021744
Community Standard Title: NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99581954G>A , CM000666.2:g.99581954G>A GRCh38
NC_000004.11:g.100503111G>A , CM000666.1:g.100503111G>A GRCh37
NC_000004.10:g.100722134G>A NCBI36
NG_011469.1:g.22872G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.111G>A MANE Select NP_001373069.1:p.Thr37=
ENST00000265517.10:c.111G>A MANE Select ENSP00000265517.5:p.Thr37=
NM_000253.3:c.111G>A NP_000244.2:p.Thr37=
NM_000253.4:c.111G>A NP_000244.2:p.Thr37=
NM_001300785.1:c.192G>A NP_001287714.1:p.Thr64=
NM_001300785.2:c.-139G>A NP_001287714.2:n.-139G>A
ENST00000265517.9:c.111G>A ENSP00000265517.5:p.Thr37=
ENST00000422897.6:c.111G>A ENSP00000407350.2:p.Thr37=
ENST00000457717.5:c.111G>A ENSP00000400821.1:p.Thr37=
ENST00000457717.6:c.111G>A ENSP00000400821.1:p.Thr37=
ENST00000505094.5:c.*201G>A ENSP00000422782.1:n.*201G>A
ENST00000505094.6:c.-139G>A ENSP00000422782.2:n.-139G>A
ENST00000505142.5:c.*301G>A ENSP00000425987.1:n.*301G>A
ENST00000506883.5:c.141G>A ENSP00000426755.1:p.Thr47=
ENST00000511045.5:c.192G>A ENSP00000427679.1:p.Thr64=
ENST00000511045.6:c.-139G>A ENSP00000427679.2:n.-139G>A
ENST00000511610.5:c.*301G>A ENSP00000422178.1:n.*301G>A
ENST00000511610.6:c.111G>A ENSP00000422178.2:p.Thr37=
ENST00000513404.5:c.*174G>A ENSP00000424972.1:n.*174G>A
ENST00000515141.5:c.*174G>A ENSP00000425642.1:n.*174G>A
ENST00000619629.1:c.111G>A ENSP00000482850.1:p.Thr37=