Canonical Allele Identifier: CA1480087979
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs1726271357

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622775_99622776insG , CM000666.2:g.99622775_99622776insG GRCh38
NC_000004.11:g.100543932_100543933insG , CM000666.1:g.100543932_100543933insG GRCh37
NC_000004.10:g.100762955_100762956insG NCBI36
NG_011469.1:g.63693_63694insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2612_2613insG MANE Select ENSP00000265517.5:p.His871GlnfsTer18
ENST00000457717.6:c.2612_2613insG ENSP00000400821.1:p.His871GlnfsTer18
ENST00000511045.6:c.2363_2364insG ENSP00000427679.2:p.His788GlnfsTer18
ENST00000265517.9:c.2612_2613insG ENSP00000265517.5:p.His871GlnfsTer18
ENST00000457717.5:c.2612_2613insG ENSP00000400821.1:p.His871GlnfsTer18
ENST00000511045.5:c.2693_2694insG ENSP00000427679.1:p.His898GlnfsTer18
ENST00000619629.1:c.*1059_*1060insG ENSP00000482850.1:n.*1059_*1060insG
NM_000253.3:c.2612_2613insG NP_000244.2:p.His871GlnfsTer18
NM_001300785.1:c.2693_2694insG NP_001287714.1:p.His898GlnfsTer18
NM_000253.4:c.2612_2613insG NP_000244.2:p.His871GlnfsTer18
NM_001300785.2:c.2363_2364insG NP_001287714.2:p.His788GlnfsTer18
NM_001386140.1:c.2612_2613insG MANE Select NP_001373069.1:p.His871GlnfsTer18