Canonical Allele Identifier: CA357502169
Gene: MTTP HGNC NCBI

Linked Data

COSMIC: COSM272961

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583428T>G , CM000666.2:g.99583428T>G GRCh38
NC_000004.11:g.100504585T>G , CM000666.1:g.100504585T>G GRCh37
NC_000004.10:g.100723608T>G NCBI36
NG_011469.1:g.24346T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.304T>G MANE Select ENSP00000265517.5:p.Phe102Val
ENST00000457717.6:c.304T>G ENSP00000400821.1:p.Phe102Val
ENST00000511045.6:c.55T>G ENSP00000427679.2:p.Phe19Val
ENST00000265517.9:c.304T>G ENSP00000265517.5:p.Phe102Val
ENST00000422897.6:c.304T>G ENSP00000407350.2:p.Phe102Val
ENST00000457717.5:c.304T>G ENSP00000400821.1:p.Phe102Val
ENST00000506883.5:c.334T>G ENSP00000426755.1:p.Phe112Val
ENST00000511045.5:c.385T>G ENSP00000427679.1:p.Phe129Val
ENST00000515141.5:c.*367T>G ENSP00000425642.1:n.*367T>G
ENST00000619629.1:c.304T>G ENSP00000482850.1:p.Phe102Val
NM_000253.3:c.304T>G NP_000244.2:p.Phe102Val
NM_001300785.1:c.385T>G NP_001287714.1:p.Phe129Val
NM_000253.4:c.304T>G NP_000244.2:p.Phe102Val
NM_001300785.2:c.55T>G NP_001287714.2:p.Phe19Val
NM_001386140.1:c.304T>G MANE Select NP_001373069.1:p.Phe102Val